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Intellectual disability syndromic and non-syndromic

Gene: POC1A

Red List (low evidence)

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID is not a prominent feature of the phenotype.
Created: 8 Dec 2019, 11:24 p.m. | Last Modified: 8 Dec 2019, 11:24 p.m.
Panel Version: 0.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
None
Panels with this gene

History Filter Activity

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: poc1a has been classified as Red List (Low Evidence).

8 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813

8 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POC1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: poc1a has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POC1A was added gene: POC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POC1A was set to Unknown