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  3. B4GALT7
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Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Perinatal lethal skeletal dysplasia described
Sources: Expert list, Literature
Created: 11 Oct 2022, 5:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Oct 2022, 5:13 a.m.

Panel version: 0.140

History Filter Activity

3 Nov 2022, 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).

3 Nov 2022, 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).

11 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: B4GALT7 was added gene: B4GALT7 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 31278392 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070 Review for gene: B4GALT7 was set to GREEN