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Intellectual disability

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 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Phenotype is relevant to this panel but additional cases required to validate pathogenicity of variants in this gene.
Created: 27 Aug 2020, 12:15 p.m. | Last Modified: 27 Aug 2020, 12:15 p.m.
Panel Version: 3.269

Zornitza Stark (Australian Genomics)

I don't know

One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies.
Sources: Literature
Created: 1 Jul 2020, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly; Intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • microcephaly
  • Intellectual disability
OMIM
608074
Clinvar variants
Variants in PDCD6IP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PDCD6IP was added gene: PDCD6IP was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD6IP were set to 32286682 Phenotypes for gene: PDCD6IP were set to microcephaly; Intellectual disability Review for gene: PDCD6IP was set to AMBER