Cerebral Palsy
Gene: FGD1EnsemblGeneIds (GRCh38): ENSG00000102302
EnsemblGeneIds (GRCh37): ENSG00000102302
OMIM: 300546, Gene2Phenotype
FGD1 is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with hemizygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Additional male with de novo hemizygous pathogenic variant reported in a clinical laboratory referral cohort (PMID:33528536). No clear phenotypic overlap with CP.
Sources: LiteratureCreated: 25 Jun 2024, 7:05 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Aarskog-Scott syndrome; Intellectual developmental disorder, X-linked syndromic 16, MIM#305400
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Aarskog-Scott syndrome
- Intellectual developmental disorder, X-linked syndromic 16, MIM#305400
- OMIM
- 300546
- Clinvar variants
- Variants in FGD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgd1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgd1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: FGD1 was added gene: FGD1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGD1 were set to PMID: 38693247; PMID:33528536 Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome; Intellectual developmental disorder, X-linked syndromic 16, MIM#305400 Review for gene: FGD1 was set to RED