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DDG2P

Gene: CBS

Green List (high evidence)

CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 14 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CBS was added gene: CBS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200