1. Genes and Genomic Entities
  2. PDCD6IP

PDCD6IP

programmed cell death 6 interacting protein
OMIM: 608074, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber PDCD6IP in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Primary microcephaly
Tags
  • watchlist
Amber PDCD6IP in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • microcephaly
    • Intellectual disability