Holoprosencephaly - NOT chromosomal
Gene: SHHAs discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:14 p.m. | Last Modified: 29 Jul 2019, 2:14 p.m.
Panel Version: 1.20
Comment when marking as ready: Green review, strong evidence, diagnostic grade test in clinical practiceCreated: 30 May 2017, 2:56 p.m.
strong evidenceCreated: 30 May 2017, 2:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly-3; Holoprosencephaly
Variants in this GENE are reported as part of current diagnostic practice
Phenotype and mode of inheritance sourced from OMIM. This gene is on the UKGTN Holoprosencephaly 6 Gene Panel and the Nonsyndromic Holoprosencephaly 6 Gene Panel.Created: 8 Jan 2016, 1:38 p.m.
Source NHS GMS was added to SHH.
Promoted to version one after review within the genomics England curation team.
Phenotypes for SHH were set to Holoprosencephaly-3; Holoprosencephaly; Holoprosencephaly 3, 142945
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SHH was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen
SHH was created by ellenmcdonagh
SHH was added to Holoprosencephalypanel. Sources: UKGTN,Other