Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: B3GALT6

Red List (low evidence)

B3GALT6 (beta-1,3-galactosyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 12 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; Nijmegen_ID_candidates; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, progeroid type, 2, 615349;

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B3GALT6 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

B3GALT6 was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE