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Limb disorders

Gene: GPC3

Green List (high evidence)

GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 11 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

More than 6 families reported for this phenotype and variants in this gene. The syndrome can include the following phenotypes: Short broad hands, Postaxial polydactyly, Syndactyly 2nd-3rd fingers, Broad thumbs, Distal phalangeal hypoplasia, Two carpal ossification centers present at birth, Short broad feet, Syndactyly 2nd-3rd toes, Broad toes, Clubfoot
Created: 7 Nov 2018, 1:26 p.m.

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

Phenotypes
Simpson-Golabi-Behmel syndrome, type 1 312870

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1 312870
  • Polydactyly
OMIM
300037
Clinvar variants
Variants in GPC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: More than 6 families reported

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: gpc3 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to GPC3. Mode of inheritance for gene GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Simpson-Golabi-Behmel syndrome, type 1 312870 for gene: GPC3 Publications for gene GPC3 were changed from to 10814714 Rating Changed from Red List (low evidence) to Green List (high evidence)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GPC3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GPC3 was created by Ellen McDonagh