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  3. FGD1
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Arthrogryposis

Gene: FGD1

Red List (low evidence)
FGD1 (FYVE, RhoGEF and PH domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000102302
EnsemblGeneIds (GRCh37): ENSG00000102302
OMIM: 300546, Gene2Phenotype
FGD1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Contractures have been reported in two individuals from a single family with Aarskog syndrome, not a typical/consistent/prominent feature of this syndrome.
Created: 11 Jul 2020, 7:24 a.m. | Last Modified: 11 Jul 2020, 7:24 a.m.
Panel Version: 0.125

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

Phenotypes
Aarskog-Scott syndrome, MIM# 305400; Mental retardation, X-linked syndromic 16 305400

Publications

Created: 11 Jul 2020, 7:24 a.m.
Last Modified: 11 Jul 2020, 7:24 a.m.
Panel version: 0.125

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Aarskog-Scott syndrome, MIM# 305400
  • Mental retardation, X-linked syndromic 16, MIM# 305400
OMIM
300546
Clinvar variants
Variants in FGD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgd1 has been classified as Red List (Low Evidence).

11 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGD1 were changed from to Aarskog-Scott syndrome, MIM# 305400; Mental retardation, X-linked syndromic 16, MIM# 305400

11 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGD1 were set to

11 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

11 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgd1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGD1 was added gene: FGD1 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FGD1 was set to Unknown