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 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

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