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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: B4GALT7

Green List (high evidence)

B4GALT7 (beta-1,4-galactosyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 14 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in OI and decreasing bone density gp of SD. At least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies 130070

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: B4GALT7 was added gene: B4GALT7 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070