As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:15 p.m. | Last Modified: 29 Jul 2019, 2:15 p.m.
Panel Version: 1.20
Comment when marking as ready: I cannot find evidence of a causal link between this gene and holoprosencephaly in PubMed or OMIM. Considered red on the current evidence.
Created: 31 May 2017, 12:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Nonsyndromic Holoprosencephaly; Hypoparathyroidism, familial isolated (AD)
The "Hypoparathyroidism, familial isolated" phenotype and the mode of inheritance for that phenotype were sourced from OMIM. This gene is on the UKGTN Nonsyndromic Holoprosencephaly 6 Gene Panel.
Created: 8 Jan 2016, 1:42 p.m.
Source NHS GMS was added to GCM2.
Promoted to version one after review within the genomics England curation team.
This gene has been classified as Red List (Low Evidence).
Phenotypes for GCM2 were set to Hypoparathyroidism, familial isolated (AD)
Phenotypes for gene GCM2 were set to Nonsyndromic Holoprosencephaly; Hypoparathyroidism, familial isolated (AD)
GCM2 was added to Holoprosencephalypanel. Sources: Other
GCM2 was created by ellenmcdonagh
GCM2 was added to Holoprosencephalypanel. Sources: UKGTN