PDCD6IP

programmed cell death 6 interacting protein
OMIM: 608074, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber PDCD6IP in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Microcephaly 29, primary, autosomal recessive, OMIM:620047 microcephaly 29, primary, autosomal recessive, MONDO:0031060 Tags Q3_26_promote_green
Amber PDCD6IP in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microcephaly 29, primary, autosomal recessive, OMIM:620047
Amber PDCD6IP in Intellectual disability Level 2: Developmental disorders Version 11.25 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Microcephaly 29, primary, autosomal recessive, OMIM:620047 microcephaly 29, primary, autosomal recessive, MONDO:0031060