1. Panels
  2. Aortopathy_Connective Tissue Disorders
  3. B4GALT7
STRs in panel
Prev Next
Regions in panel
Prev Next

Aortopathy_Connective Tissue Disorders

Gene: B4GALT7

Green List (high evidence)
B4GALT7 (beta-1,4-galactosyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).
At least 6 families reported with compound heterozygous or homozygous variants, with a spondylodysplastic EDS phenotype.
Sources: Expert list
Created: 1 Jul 2020, 5:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS

Publications

Created: 1 Jul 2020, 5:33 a.m.

Panel version: 0.101

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: b4galt7 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: b4galt7 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: B4GALT7 was added gene: B4GALT7 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 28306229; 26940150; 24755949; 23956117 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS Review for gene: B4GALT7 was set to GREEN