GJA8

gap junction protein alpha 8
OMIM: 600897, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GJA8 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia

Green GJA8 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia
  • Anterior segment dysgenesis

Green GJA8 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia

Green GJA8 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia

Green GJA8 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia