Last 12 months - Genetics Home Reference
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September 2, 2013
Condition: anhidrotic ectodermal dysplasia with immune deficiency
Gene: IDH2: isocitrate dehydrogenase 2 (NADP+), mitochondrial
Gene: NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
Gene: SLC25A1: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
Gene family: ANKRD
Gene family: ZC2HC
August 26, 2013
Condition: lissencephaly with cerebellar hypoplasia
Condition: mandibuloacral dysplasia
Condition: nonsyndromic aplasia cutis congenita
Condition: Sjögren syndrome
Gene: RELN: reelin
Gene: ZMPSTE24: zinc metallopeptidase STE24
Gene family: intermediate filaments type V, lamins
August 20, 2013
Condition: complete LCAT deficiency
Condition: familial isolated pituitary adenoma
Condition: fish-eye disease
Condition: isolated Pierre Robin sequence
Condition: late-infantile neuronal ceroid lipofuscinosis
Condition: RAPADILINO syndrome
Gene: AIP: aryl hydrocarbon receptor interacting protein
Gene: CLN5: ceroid-lipofuscinosis, neuronal 5
Gene: CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Gene: CLN8: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Gene: LCAT: lecithin-cholesterol acyltransferase
Gene: MFSD8: major facilitator superfamily domain containing 8
Gene: TPP1: tripeptidyl peptidase I
August 12, 2013
Condition: sick sinus syndrome
Condition: Snyder-Robinson syndrome
Gene: HCN4: hyperpolarization activated cyclic nucleotide-gated potassium channel 4
Gene: MYH6: myosin, heavy chain 6, cardiac muscle, alpha
Gene: SMS: spermine synthase
Gene family: CNG
August 5, 2013
Condition: Mabry syndrome
Condition: osteoglophonic dysplasia
Condition: Walker-Warburg syndrome
Gene: CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
Gene: FKRP: fukutin related protein
Gene: ISPD: isoprenoid synthase domain containing
Gene: LARGE: like-glycosyltransferase
Gene: PGAP2: post-GPI attachment to proteins 2
Gene: PIGO: phosphatidylinositol glycan anchor biosynthesis, class O
Gene: PIGV: phosphatidylinositol glycan anchor biosynthesis, class V
Gene: POMT1: protein-O-mannosyltransferase 1
Gene: POMT2: protein-O-mannosyltransferase 2
Gene family: dolichyl D-mannosyl phosphate dependent mannosyltransferases
Gene family: PIG
Gene family: glycosyltransferase family 8 domain containing
July 29, 2013
Condition: granulomatosis with polyangiitis
Condition: infantile neuronal ceroid lipofuscinosis
Gene: HLA-DPB1: major histocompatibility complex, class II, DP beta 1
Gene family: immunoglobulin superfamily, C1-set domain containing
July 22, 2013
Condition: Graves disease
Condition: Hashimoto thyroiditis
Condition: retroperitoneal fibrosis
Gene family: WDR
July 15, 2013
Condition: congenital neuronal ceroid lipofuscinosis
Condition: isolated lissencephaly sequence
Gene: CTSD: cathepsin D
Gene: TUBA1A: tubulin, alpha 1a
Gene family: TUB
July 8, 2013
Condition: 8p11 myeloproliferative syndrome
Gene: ZMYM2: zinc finger, MYM-type 2
Gene family: immunoglobulin superfamily, I-set domain containing
Gene family: ZMYM
July 1, 2013
Gene family: CLCN
June 24, 2013
Condition: lacrimo-auriculo-dento-digital syndrome
Gene: FGF10: fibroblast growth factor 10
June 17, 2013
Condition: medullary cystic kidney disease type 1
Condition: Pol III-related leukodystrophy
Gene: MUC1: mucin 1, cell surface associated
Gene: POLR3A: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
Gene: POLR3B: polymerase (RNA) III (DNA directed) polypeptide B
Gene family: MUC
Gene family: POLR
June 10, 2013
Condition: antiphospholipid syndrome
June 3, 2013
What does it mean to have a genetic predisposition to a disease?
May 29, 2013
Condition: benign chronic pemphigus
Condition: critical congenital heart disease
Condition: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (often shortened to NFJS/DPR)
Condition: Partington syndrome
Condition: renal tubular dysgenesis
Condition: Weaver syndrome
Gene: ACE: angiotensin I converting enzyme
Gene: AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
Gene: AGTR1: angiotensin II receptor, type 1
Gene: ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
Gene: EZH2: enhancer of zeste homolog 2 (Drosophila)
Gene family: endogenous ligands
May 20, 2013
Condition: Coffin-Siris syndrome
Condition: DICER1 syndrome
Condition: factor V deficiency
Condition: Mainzer-Saldino syndrome
Condition: Pearson marrow-pancreas syndrome
Condition: sitosterolemia
Gene: ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5
Gene: ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8
Gene: ARID1A: AT rich interactive domain 1A (SWI-like)
Gene: ARID1B: AT rich interactive domain 1B (SWI1-like)
Gene: DICER1: dicer 1, ribonuclease type III
Gene: IFT140: intraflagellar transport 140 homolog (Chlamydomonas)
Gene: SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Gene: SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Gene: SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
May 13, 2013
Condition: Carpenter syndrome
Gene: EPCAM: epithelial cell adhesion molecule
Gene: MEGF8: multiple EGF-like-domains 8
Gene: RAB23: RAB23, member RAS oncogene family
May 6, 2013
Condition: Baraitser-Winter syndrome
Gene: ACTB: actin, beta
April 29, 2013
Condition: progressive pseudorheumatoid dysplasia
Gene: WISP3: WNT1 inducible signaling pathway protein 3
April 16, 2013
Condition: autosomal recessive hypotrichosis
Condition: Caffey disease
Condition: desmoid tumor
Condition: Horner syndrome
Condition: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (often shortened to IMAGe syndrome)
Condition: multiple sclerosis
Condition: Ohdo syndrome, Maat-Kievit-Brunner type
Gene: HLA-DRB1: major histocompatibility complex, class II, DR beta 1
Gene: IL7R: interleukin 7 receptor
Gene: LIPH: lipase, member H
Gene: LPAR6: lysophosphatidic acid receptor 6
Gene family: fibronectin type III domain containing
April 9, 2013
Condition: Poland syndrome
Condition: type 1 diabetes
March 25, 2013
What is the prognosis of a genetic condition?
Condition: Denys-Drash syndrome
Condition: Frasier syndrome
Gene: BDNF: brain-derived neurotrophic factor
Gene: KANSL1: KAT8 regulatory NSL complex subunit 1
March 18, 2013
Condition: familial pityriasis rubra pilaris
Gene: CARD14: caspase recruitment domain family, member 14
March 4, 2013
Condition: familial hypertrophic cardiomyopathy
Condition: glycogen storage disease type IV
Condition: Liddle syndrome
Condition: mycosis fungoides
Condition: myosin storage myopathy
Condition: Rotor syndrome
Condition: Sézary syndrome
Gene: MYBPC3: myosin binding protein C, cardiac
Gene: SLCO1B1: solute carrier organic anion transporter family, member 1B1
Gene: SLCO1B3: solute carrier organic anion transporter family, member 1B3
Gene: TNNT2: troponin T type 2 (cardiac)
Gene family: myosin superfamily
Gene family: MYBP
February 25, 2013
Condition: Shprintzen-Goldberg syndrome
Gene: SKI: v-ski avian sarcoma viral oncogene homolog
Gene family: SKOR
February 18, 2013
Condition: X-linked thrombocytopenia
February 11, 2013
Condition: PDGFRB-associated chronic eosinophilic leukemia
Condition: piebaldism
Gene: ETV6: ets variant 6
Gene: PDGFRB: platelet-derived growth factor receptor, beta polypeptide
Gene: SLC20A2: solute carrier family 20 (phosphate transporter), member 2
February 4, 2013
Condition: arterial tortuosity syndrome
Condition: auriculo-condylar syndrome
Condition: genitopatellar syndrome
Condition: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Condition: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant (often shortened to Ohdo syndrome, SBBYS variant)
Gene: GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
Gene: KAT6B: K(lysine) acetyltransferase 6B
Gene: MPV17: MpV17 mitochondrial inner membrane protein
Gene: PLCB4: phospholipase C, beta 4
Gene: SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
Gene family: chromatin-modifying enzymes
January 28, 2013
Condition: combined malonic and methylmalonic aciduria (often shortened to CMAMMA)
Gene: ACSF3: acyl-CoA synthetase family member 3
Gene family: ACS
January 17, 2013
Condition: Myhre syndrome
January 7, 2013
Condition: Cantú syndrome
Condition: juvenile primary osteoporosis
Condition: osteoporosis-pseudoglioma syndrome
Condition: spinal muscular atrophy with respiratory distress type 1 (often shortened to SMARD1)
Gene: ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Gene: DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
Gene family: DYN
December 17, 2012
Condition: Floating-Harbor syndrome
Condition: hereditary diffuse leukoencephalopathy with spheroids (often shortened to HDLS)
Gene: CSF1R: colony stimulating factor 1 receptor
Gene: SRCAP: Snf2-related CREBBP activator protein
December 11, 2012
What is the epigenome?
How are genetic conditions diagnosed?
How are genetic conditions treated or managed?
What is genetic ancestry testing?
What advances are being made in DNA sequencing?
Condition: Lujan syndrome
Condition: task-specific focal dystonia
Condition: Weyers acrofacial dysostosis
December 2, 2012
Condition: Bart-Pumphrey syndrome
Condition: congenital insensitivity to pain
Condition: Dowling-Degos disease
Condition: hereditary sensory and autonomic neuropathy type IE
Condition: hystrix-like ichthyosis with deafness
Condition: keratitis-ichthyosis-deafness syndrome
Condition: palmoplantar keratoderma with deafness
Condition: paroxysmal extreme pain disorder
Condition: small fiber neuropathy
Condition: Vohwinkel syndrome
Gene: DNMT1: DNA (cytosine-5-)-methyltransferase 1
Gene: LOR: loricrin
Gene: SCN10A: sodium channel, voltage-gated, type X, alpha subunit
November 19, 2012
Condition: congenital deafness with labyrinthine aplasia, microtia, and microdontia (often shortened to LAMM syndrome)
Condition: familial HDL deficiency
Gene: APOA1: apolipoprotein A-I
Gene: FGF3: fibroblast growth factor 3
November 5, 2012
Condition: Bietti crystalline dystrophy
Condition: Potocki-Shaffer syndrome
Condition: primary spontaneous pneumothorax
Gene: CYP4V2: cytochrome P450, family 4, subfamily V, polypeptide 2
October 30, 2012
Condition: hypermanganesemia with dystonia, polycythemia, and cirrhosis (often shortened to HMDPC)
Gene: SLC30A10: solute carrier family 30, member 10
October 23, 2012
Condition: adenine phosphoribosyltransferase deficiency
Condition: CHST3-related skeletal dysplasia
Condition: cytochrome c oxidase deficiency
Condition: fatty acid hydroxylase-associated neurodegeneration
Condition: hereditary pancreatitis
Condition: maternally inherited diabetes and deafness (often shortened to MIDD)
Condition: 1q21.1 microdeletion
Gene: APRT: adenine phosphoribosyltransferase
Gene: CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
Gene: FA2H: fatty acid 2-hydroxylase
Gene: MT-TE: mitochondrially encoded tRNA glutamic acid
Gene: PRSS1: protease, serine, 1 (trypsin 1)
Gene family: PRSS
Gene family: SULTM
Gene family: TRNA
October 15, 2012
Condition: familial osteochondritis dissecans
Condition: ulcerative colitis
Gene: ACAN: aggrecan
October 8, 2012
Gene: RBM8A: RNA binding motif protein 8A
October 2, 2012
Condition: glycogen storage disease type IX
Gene: KLLN: killin, p53-regulated DNA replication inhibitor
Gene: PHKA1: phosphorylase kinase, alpha 1 (muscle)
Gene: PHKA2: phosphorylase kinase, alpha 2 (liver)
Gene: PHKB: phosphorylase kinase, beta
Gene: PHKG2: phosphorylase kinase, gamma 2 (testis)