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Fetal anomalies

Gene: FRMPD4

Green List (high evidence)

FRMPD4 (FERM and PDZ domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000169933
EnsemblGeneIds (GRCh37): ENSG00000169933
OMIM: 300838, Gene2Phenotype
FRMPD4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple affected individuals from unrelated families. Corpus callosum abnormalities, retrognathia reported.
Created: 3 Dec 2019, 9:40 a.m. | Last Modified: 8 Feb 2022, 9:55 a.m.
Panel Version: 0.3197

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked 104, MIM#300983

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual Disability, X-linked 104, MIM#300983
OMIM
300838
Clinvar variants
Variants in FRMPD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmpd4 has been classified as Green List (High Evidence).

8 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FRMPD4 were changed from Intellectual Disability to Intellectual Disability, X-linked 104, MIM#300983

8 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FRMPD4 were set to

8 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmpd4 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRMPD4 was added gene: FRMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMPD4 were set to Intellectual Disability