VPS35L:Ensemblv115

VPS35 endosomal protein sorting factor like
OMIM: 618981, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber VPS35L in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

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

Amber VPS35L in Chondrodysplasia Punctata


Level 2: Skeletal disorders
Version 2.0

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

Green VPS35L in Fetal anomalies


Version 2.0

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