New & Updated Pages - Genetics Home Reference

New & Updated Pages - Genetics Home Reference

Updated Pages

May 22, 2018

• DYNC1H1 gene
• GLRA1 gene
• Hereditary hyperekplexia
• Mannose-binding lectin deficiency
• Restless legs syndrome

May 15, 2018

• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• LMNA gene
• Marfan syndrome

May 8, 2018

• Buschke-Ollendorff syndrome
• EDN3 gene
• EDNRB gene
• Hirschsprung disease
• LEMD3 gene
• MAP2K1 gene
• RET gene
• SMARCA4 gene
• SMARCB1 gene

May 1, 2018

• Spondylocarpotarsal synostosis syndrome

April 11, 2018

• DOORS syndrome
• Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• VCP gene

April 3, 2018

• Andersen-Tawil syndrome
• KCNJ2 gene

March 27, 2018

• CLN1 disease
• FGFR3 gene
• Muenke syndrome
• WAS gene
• Wiskott-Aldrich syndrome

March 20, 2018

• Cone-rod dystrophy

March 6, 2018

• Hypophosphatasia
• X-linked cardiac valvular dysplasia
• X-linked thrombocytopenia

February 27, 2018

• 47,XYY syndrome
• Hereditary leiomyomatosis and renal cell cancer
• Microcephalic osteodysplastic primordial dwarfism type II

February 20, 2018

• Abetalipoproteinemia
• Arrhythmogenic right ventricular cardiomyopathy
• Epidermolysis bullosa with pyloric atresia
• MTTP gene
• Oculopharyngeal muscular dystrophy
• PABPN1 gene
• PCCA gene
• PCCB gene
• PKP2 gene
• Propionic acidemia
• Schizophrenia

February 13, 2018

• Periventricular heterotopia
• Progressive osseous heteroplasia
• Very long-chain acyl-CoA dehydrogenase deficiency

February 6, 2018

• DVL1 gene
• Glycogen storage disease type VI
• Hashimoto thyroiditis
• Pelizaeus-Merzbacher disease
• Peroxisomal acyl-CoA oxidase deficiency
• PLP1 gene
• Robinow syndrome
• ROR2 gene
• WNT5A gene

January 30, 2018

• McCune-Albright syndrome

January 23, 2018

• HSD10 disease
• HSD17B10 gene
• KBG syndrome
• PPM-X syndrome
• Pulmonary alveolar microlithiasis
• SLC34A2 gene
• TRAPPC2 gene
• X-linked spondyloepiphyseal dysplasia tarda

January 9, 2018

• GALC gene
• Krabbe disease

January 2, 2018

• EGFR gene
• IRAK-4 deficiency
• KRAS gene
• Lung cancer
• TP53 gene

December 29, 2017

• ACTG2 gene
• Blau syndrome
• FLNA gene
• Intestinal pseudo-obstruction

December 19, 2017

• CYP27B1 gene
• VDR gene
• Vitamin D-dependent rickets

December 12, 2017

• ALG1-congenital disorder of glycosylation
• Retinoblastoma

December 5, 2017

• ADAMTS2 gene
• Aicardi-Goutières syndrome
• ARX gene
• ATG16L1 gene
• Camurati-Engelmann disease
• CDKL5 gene
• COL1A1 gene
• COL1A2 gene
• COL3A1 gene
• COL5A1 gene
• COL5A2 gene
• Crohn disease
• Early infantile epileptic encephalopathy 1
• Ehlers-Danlos syndrome
• IL23R gene
• IRGM gene
• NOD2 gene
• PLOD1 gene
• RNASEH2A gene
• RNASEH2B gene
• RNASEH2C gene
• SAMHD1 gene
• TGFB1 gene
• TNXB gene
• TREX1 gene

November 28, 2017

• Critical congenital heart disease

November 21, 2017

• Ocular albinism
• Usher syndrome

November 7, 2017

• GBA gene
• SNCA gene
• X chromosome

October 24, 2017

• Aarskog-Scott syndrome
• Atopic dermatitis
• Chromosome 17
• FGD1 gene
• FLG gene
• Moyamoya disease
• Ornithine transcarbamylase deficiency
• RAI1 gene
• Smith-Magenis syndrome

October 17, 2017

• 9q22.3 microdeletion
• BRAF gene
• Distal arthrogryposis type 1
• Familial atrial fibrillation
• Langerhans cell histiocytosis
• Mitochondrial DNA
• Myoclonus-dystonia
• Ménière disease
• Phenylketonuria
• SGCE gene
• Turner syndrome

October 10, 2017

• 48,XXYY syndrome
• Hypermanganesemia with dystonia
• SLC30A10 gene
• Sporadic hemiplegic migraine
• Sézary syndrome

October 3, 2017

• Chorea-acanthocytosis
• Cyclic neutropenia
• Hypokalemic periodic paralysis
• Severe congenital neutropenia

September 12, 2017

• CDC73 gene
• DNMT3A gene
• FH gene
• Fumarase deficiency
• Jervell and Lange-Nielsen syndrome
• KCNE1 gene
• KCNQ1 gene

September 5, 2017

• Chromosome 5

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

• Partington syndrome

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

• 7q11.23 duplication syndrome
• GPC3 gene
• Simpson-Golabi-Behmel syndrome
• SMCHD1 gene

July 18, 2017

• PNPLA6 gene
• SCN1A gene

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

• Phenylketonuria
• Pol III-related leukodystrophy

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

• Nijmegen breakage syndrome

May 23, 2017

• ASS1 gene
• Citrullinemia
• SLC25A13 gene