Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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.
Created: 3 Dec 2019, 9:40 a.m. | Last Modified: 3 Dec 2019, 9:40 a.m.
Panel Version: 0.243

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
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 104, MIM#300983
OMIM
300838
Clinvar variants
Variants in FRMPD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, 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).

3 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FRMPD4 were set to

3 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FRMPD4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRMPD4 was added gene: FRMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FRMPD4 was set to Unknown