ATG4D

autophagy related 4D cysteine peptidase
OMIM: 611340, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ATG4D in Mendeliome


Version 1.2789

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ATG4D-related
  • Spermatogenic failure 101, MIM# 621269

Green ATG4D in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.202

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ATG4D-related

Amber ATG4D in Infertility and Recurrent Pregnancy Loss


Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spermatogenic failure 101, MIM# 621269