Genes in panel

Fetal anomalies

Gene: B4GALT7

Green List (high evidence)

B4GALT7 (beta-1,4-galactosyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for EHLERS-DANLOS SYNDROME PROGEROID TYPE
Created: 11 Dec 2018, 9:04 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: B4GALT7 was added gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE