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  3. PDCD6IP
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Fetal anomalies

Gene: PDCD6IP

Amber List (moderate evidence)
PDCD6IP (programmed cell death 6 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000170248
EnsemblGeneIds (GRCh37): ENSG00000170248
OMIM: 608074, Gene2Phenotype
PDCD6IP is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

I don't know

Amber in microcephaly uK panel (just 32286682 and says requires additional cases), green in Aus panel & FA due to microcephaly. 32286682 2 affecteds 1 consanguineous family. Microcephaly at birth (<2 SD) MRI mildly simplified gyral pattern, posterior fossa normal brain stem with large cerebellum. Echogenic right kidney. Mouse & zebrafish models also have similar phenotype. 40897677 1 affected consanguineous with microcepahly and short stature but not present at birth. Also had onychodystrophy. Amber.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 29, primary, autosomal recessive, OMIM:620047

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly 29, primary, autosomal recessive, OMIM:620047
OMIM
608074
Clinvar variants
Variants in PDCD6IP
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Microcephaly 29, primary, autosomal recessive, OMIM:620047 for gene: PDCD6IP

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: PDCD6IP was added gene: PDCD6IP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal