ARL3

ARF like GTPase 3
OMIM: 604695, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ARL3 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 35 MIM#618161

Green ARL3 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 35 MIM#618161

Green ARL3 in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 35 MIM#618161
  • Retinitis pigmentosa 83 MIM#618173

Amber ARL3 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 83
  • Joubert syndrome 35

Green ARL3 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 35 MIM#618161

Green ARL3 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 35- MIM#618161