Limb disordersGene: GPC3
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
Simpson-Golabi-Behmel syndrome, type 1 312870
Ellen McDonagh: More than 6 families reported
Gene: gpc3 has been classified as Green List (High Evidence).
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)
GPC3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
GPC3 was created by Ellen McDonagh