Holoprosencephaly - NOT chromosomal
Gene: DHCR7
Comment on publications: added OMIM phenotype and publications to support the rating of this gene to be GreenCreated: 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 listCreated: 29 Jul 2019, 1:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Publications
Source NHS GMS was added to DHCR7.
Gene: dhcr7 has been classified as Green List (High Evidence).
Gene: dhcr7 has been classified as Green List (High Evidence).
Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
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