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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature.

p.Arg270Cys is a founder variant in Reunion Island.
Created: 13 Nov 2020, 9:02 a.m. | Last Modified: 13 Nov 2020, 9:02 a.m.
Panel Version: 0.5362

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function - missense variants in transfected CHO cells shown to have reduced/no enzyme activity and protein mislocalization (PMID: 31278392).

partial K/O zebrafish replicated the human phenotype and these variants still have an AR mode of inheritance (PMID: 31862401, PMID: 31614862).
Created: 13 Nov 2020, 3:28 a.m. | Last Modified: 13 Nov 2020, 3:28 a.m.
Panel Version: 0.5357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PMID: 31278392; 31614862; 31862401

Publications

  • Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070

13 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B4GALT7 were set to

13 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: B4GALT7.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B4GALT7 was added gene: B4GALT7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B4GALT7 was set to Unknown