New & Updated Pages
New Pages
September 12, 2017
September 5, 2017
- 5q31.3 microdeletion syndrome
- NGLY1-congenital disorder of deglycosylation
- NGLY1 gene
- PPP2R5D gene
- PPP2R5D-related intellectual disability
- PURA gene
- PURA syndrome
- TUBB4A gene
- TUBB4A-related leukodystrophy
- What are genome editing and CRISPR-Cas9?
August 29, 2017
August 22, 2017
August 8, 2017
August 2, 2017
- aldosterone-producing adenoma
- anauxetic dysplasia
- ATP1A1 gene
- blepharocheilodontic syndrome
- CACNA1D gene
- CTNND1 gene
- Grange syndrome
- JAK3-deficient severe combined immunodeficiency
- JAK3 gene
- SCN8A gene
- SCN8A-related epilepsy with encephalopathy
- STXBP1 encephalopathy with epilepsy
- STXBP1 gene
- YY1AP1 gene
July 25, 2017
July 18, 2017
- autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- genetic epilepsy with febrile seizures plus
- Gordon Holmes syndrome
- RNF216 gene
July 11, 2017
July 5, 2017
- ASH1L gene
- autism spectrum disorder
- CHD8 gene
- DYRK1A gene
- POGZ gene
- trichorhinophalangeal syndrome type I
June 27, 2017
June 13, 2017
June 6, 2017
May 30, 2017
May 16, 2017
May 9, 2017
- FBXL4 gene
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- MAOA gene
- monoamine oxidase A deficiency
- PADI3 gene
- TCHH gene
- TGM3 gene
- uncombable hair syndrome
May 2, 2017
April 25, 2017
April 18, 2017
April 11, 2017
April 4, 2017
- ADNP gene
- ADNP syndrome
- ankyrin-B syndrome
- DEPDC5 gene
- familial focal epilepsy with variable foci
- glycoprotein VI deficiency
- GP6 gene
- NPRL2 gene
- NPRL3 gene
March 21, 2017
March 14, 2017
March 7, 2017
- GNAQ gene
- IL31RA gene
- OSMR gene
- primary localized cutaneous amyloidosis
- SATB2-associated syndrome
- SATB2 gene
- Sturge-Weber syndrome
February 21, 2017
February 14, 2017
February 7, 2017
- FAM111B gene
- hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
January 31, 2017
- AKT3 gene
- BAP1 gene
- BAP1 tumor predisposition syndrome
- CCND2 gene
- megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- PIK3R2 gene
January 24, 2017
January 17, 2017
January 10, 2017
- acrocallosal syndrome
- brain-lung-thyroid syndrome
- HIVEP2 gene
- HIVEP2-related intellectual disability
- KIF7 gene
- NKX2-1 gene
December 13, 2016
- ASXL1 gene
- Bohring-Opitz syndrome
- CHD2 gene
- CHD2 myoclonic encephalopathy
- FGF8 gene
- OTULIN gene
- otulipenia
November 29, 2016
November 15, 2016
- non-alcoholic fatty liver disease
- PNPLA3 gene
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
November 8, 2016
November 1, 2016
October 25, 2016
October 18, 2016
- Boucher-Neuhäuser syndrome
- epilepsy-aphasia spectrum
- F7 gene
- factor VII deficiency
- GRIN2A gene
- Hartsfield syndrome
- PNPLA6 gene
September 28, 2016
- ABL1 gene
- BCR gene
- CA5A gene
- carbonic anhydrase VA deficiency
- CARD9 gene
- chronic myeloid leukemia
- familial candidiasis
- IL17RC gene
- STAT1 gene
September 20, 2016
Updated Pages
September 12, 2017
- CDC73 gene
- DNMT3A gene
- FH gene
- fumarase deficiency
- Jervell and Lange-Nielsen syndrome
- KCNE1 gene
- KCNQ1 gene
September 5, 2017
August 29, 2017
- cleidocranial dysplasia
- Dowling-Degos disease
- familial paroxysmal nonkinesigenic dyskinesia
- KRT5 gene
- Nager syndrome
- PNKD gene
- RUNX2 gene
August 22, 2017
- chromosome 3
- chromosome 16
- ETHE1 gene
- ethylmalonic encephalopathy
- OPA1 gene
- optic atrophy type 1
- PC gene
- pyruvate carboxylase deficiency
August 15, 2017
August 2, 2017
- ADCY5-related dyskinesia
- BCKDHA gene
- BCKDHB gene
- CDH1 gene
- DBT gene
- Joubert syndrome
- KCNJ5 gene
- maple syrup urine disease
- RMRP gene
July 25, 2017
July 18, 2017
July 11, 2017
- ABCA12 gene
- ALOX12B gene
- ALOXE3 gene
- nonbullous congenital ichthyosiform erythroderma
- surfactant dysfunction
July 5, 2017
- alpha thalassemia
- ARID1B gene
- CHD2 gene
- chromosome 8
- dentinogenesis imperfecta
- EXT1 gene
- RAD21 gene
- SHANK3 gene
- SYNGAP1 gene
- trichorhinophalangeal syndrome type II
- TRPS1 gene
June 27, 2017
- Behçet disease
- immune thrombocytopenia
- megalencephaly-capillary malformation syndrome
- MYBPC3 gene
- MYH7 gene
- Sézary syndrome
- Wolff-Parkinson-White syndrome
June 20, 2017
June 13, 2017
- Cohen syndrome
- DNMT1 gene
- EMD gene
- Emery-Dreifuss muscular dystrophy
- hereditary sensory and autonomic neuropathy type IE
- LMNA gene
- Myhre syndrome
- retinoblastoma
- SMAD4 gene
- VPS13B gene
May 30, 2017
May 23, 2017
May 16, 2017
- CARD14 gene
- FOXP3 gene
- immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- KCNH2 gene
- KCNQ1 gene
- Romano-Ward syndrome
- SCN5A gene
May 9, 2017
- G6PD gene
- glucose-6-phosphate dehydrogenase deficiency
- long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Mayer-Rokitansky-Küster-Hauser syndrome
May 2, 2017
- familial dilated cardiomyopathy
- hereditary sensory and autonomic neuropathy type II
- RETREG1 gene
- WNK1 gene
April 25, 2017
April 18, 2017
April 11, 2017
April 4, 2017
March 28, 2017
- Crouzon syndrome with acanthosis nigricans
- FGFR3 gene
- frontotemporal dementia with parkinsonism-17
- mucopolysaccharidosis type III
- multiple endocrine neoplasia
March 21, 2017
- Loeys-Dietz syndrome
- MECP2 duplication syndrome
- MECP2 gene
- SMAD3 gene
- TGFB2 gene
- TGFBR1 gene
- TGFBR2 gene
- tubular aggregate myopathy
March 14, 2017
March 7, 2017
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- anhidrotic ectodermal dysplasia with immune deficiency
- chromosome 2
- cutis laxa
- tuberous sclerosis complex
February 28, 2017
February 21, 2017
February 14, 2017
- 2-methylbutyryl-CoA dehydrogenase deficiency
- ACADSB gene
- DMD gene
- LIPA gene
- lysosomal acid lipase deficiency
- X-linked dilated cardiomyopathy
February 7, 2017
January 31, 2017
- congenital hepatic fibrosis
- Emanuel syndrome
- Jackson-Weiss syndrome
- Kabuki syndrome
- KDM6A gene
- KMT2D gene
- mitochondrial membrane protein-associated neurodegeneration
- Pfeiffer syndrome
January 24, 2017
January 17, 2017
- CLN3 disease
- CLN3 gene
- CLN4 disease
- CLN6 gene
- CLN8 disease
- CLN8 gene
- DNAJC5 gene
- familial dilated cardiomyopathy
- FKRP gene
- FKTN gene
- ISPD gene
- LARGE1 gene
- MFSD8 gene
- POMT1 gene
- POMT2 gene
- Walker-Warburg syndrome
January 3, 2017
December 28, 2016
December 21, 2016
December 13, 2016
December 6, 2016
December 1, 2016
November 29, 2016
November 22, 2016
- Duchenne and Becker muscular dystrophy
- hereditary paraganglioma-pheochromocytoma
- primary spontaneous pneumothorax
- Refsum disease
- Snyder-Robinson syndrome