PDCD6IP

programmed cell death 6 interacting protein
OMIM: 608074, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber PDCD6IP in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 29, primary, autosomal recessive, MIM# 620047
  • Microcephaly
  • intellectual disability

Amber PDCD6IP in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 29, primary, autosomal recessive, MIM# 620047

Amber PDCD6IP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 29, primary, autosomal recessive, MIM# 620047

Amber PDCD6IP in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 29, primary, autosomal recessive, MIM# 620047