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  3. FRMPD4
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Intellectual_disability

Gene: FRMPD4

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

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300838
Clinvar variants
Variants in FRMPD4
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FRMPD4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FRMPD4 was added to Intellectual_disabilitypanel. Source: Candidate gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FRMPD4 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory