ARHGAP35

Rho GTPase activating protein 35
OMIM: 605277, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ARHGAP35 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.55

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental defect of the eye (MONDO:0020145), ARHGAP35-related

Green ARHGAP35 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.36

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related

Green ARHGAP35 in Mendeliome


Version 1.4215

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related
  • neurodevelopmental disorder, ARHGAP35-related MONDO#0700092
  • Developmental defect of the eye (MONDO:0020145), ARHGAP35-related

Green ARHGAP35 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder, ARHGAP35-related MONDO#0700092

Green ARHGAP35 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.173

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Literature
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related

Green ARHGAP35 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.80

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related