C16orf62

chromosome 16 open reading frame 62
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber C16orf62 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Tags
  • new gene name

Amber C16orf62 in Chondrodysplasia Punctata


Level 2: Skeletal disorders
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135

Green C16orf62 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Tags
  • new gene name

Green C16orf62 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Tags
  • new gene name

Green C16orf62 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135