Holoprosencephaly

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 29 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Comment on publications: added OMIM phenotype and publications to support the rating of this gene to be Green
Created: 29 Jul 2019, 2:10 p.m. | Last Modified: 29 Jul 2019, 2:10 p.m.
Panel Version: 1.19
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp curation team added phenotype/MOI and publications to support Green review
Sources: Expert list
Created: 29 Jul 2019, 1:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)

Publications

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DHCR7.

29 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dhcr7 has been classified as Green List (High Evidence).

29 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dhcr7 has been classified as Green List (High Evidence).

29 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700

29 Jul 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: DHCR7 was added gene: DHCR7 was added to Holoprosencephaly. Sources: Expert list Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE) Review for gene: DHCR7 was set to AMBER