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  3. B4GALT7
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Clefting disorders

Gene: B4GALT7

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Clefting disorders are a rare feature of this skeletal dysplasia.
Created: 10 Jul 2023, 9:18 a.m. | Last Modified: 10 Jul 2023, 9:18 a.m.
Panel Version: 0.198

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070

Created: 10 Jul 2023, 9:18 a.m.
Last Modified: 10 Jul 2023, 9:18 a.m.
Panel version: 0.198

History Filter Activity

10 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4galt7 has been classified as Amber List (Moderate Evidence).

10 Jul 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B4GALT7 were changed from EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070

16 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B4GALT7 was added gene: B4GALT7 was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 24755949 Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA