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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Additional individuals were identified and published as aggregate cases.
Created: 5 Mar 2025, 5:07 a.m. | Last Modified: 5 Mar 2025, 5:07 a.m.
Panel Version: 1.2346

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254, PHACTR4-related

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

The association with human disease phenotype is not yet established - classified as Red.
Two affected individuals present with overlapping phenotypic features including some neurodevelopmental features. Both having de novo variants (p. Arg622Pro and p.Leu623Pro) located in the RPEL3 repeat domain.
p.Leu623Pro was present at 19% VAF in patient two.
Sources: Literature
Created: 4 Mar 2025, 1:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Abnormality in embryonic development, MONDO:0019755

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHACTR4 were changed from Abnormality in embryonic development, MONDO:0019755 to Syndromic disease, MONDO:0002254, PHACTR4-related

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).

4 Mar 2025, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PHACTR4 was added gene: PHACTR4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PHACTR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHACTR4 were set to 40012205 Phenotypes for gene: PHACTR4 were set to Abnormality in embryonic development, MONDO:0019755 Review for gene: PHACTR4 was set to RED