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Intellectual disability syndromic and non-syndromic

Gene: PHACTR4

Amber List (moderate evidence)

PHACTR4 (phosphatase and actin regulator 4)
EnsemblGeneIds (GRCh38): ENSG00000204138
EnsemblGeneIds (GRCh37): ENSG00000204138
OMIM: 608726, Gene2Phenotype
PHACTR4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals with syndromic disease and de novo missense variants reported together with aggregate information on additional individuals.
Sources: Literature
Created: 5 Mar 2025, 5:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254, PHACTR4-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, PHACTR4-related
OMIM
608726
Clinvar variants
Variants in PHACTR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phactr4 has been classified as Amber List (Moderate Evidence).

5 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phactr4 has been classified as Amber List (Moderate Evidence).

5 Mar 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHACTR4 was added gene: PHACTR4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHACTR4 were set to 40012205 Phenotypes for gene: PHACTR4 were set to Syndromic disease, MONDO:0002254, PHACTR4-related Review for gene: PHACTR4 was set to AMBER