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DDG2P

Gene: FRMPD4

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Intellectual Disability
OMIM
300838
Clinvar variants
Variants in FRMPD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: FRMPD4 was added gene: FRMPD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMPD4 were set to 25644381 Phenotypes for gene: FRMPD4 were set to Intellectual Disability