Skeletal dysplasia
Gene: B4GALT7
Listed in OI and decreasing bone density gp of SD. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies 130070
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: B4GALT7; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Four variants reported in this phenotypeCreated: 13 Jul 2016, 7:45 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 11 Jul 2016, 10:41 a.m.
Tier 2Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 for gene: B4GALT7
Source NHS GMS was added to B4GALT7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for B4GALT7 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070
B4GALT7 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
B4GALT7 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory B4GALT7 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
B4GALT7 was added to Unexplained skeletal dysplasiapanel. Sources:
B4GALT7 was created by sleigh