Holoprosencephaly - NOT chromosomal
Gene: FGF8As 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, 2:13 p.m. | Last Modified: 29 Jul 2019, 2:13 p.m.
Panel Version: 1.20
Comment when marking as ready: 4 cases in PMID 27363716. Considered sufficient evidenceCreated: 30 May 2017, 3:42 p.m.
Comment on list classification: 4 unrelated cases in PMID 27363716 with holoprosencephaly. 3 missense, 1 nonsense.Created: 30 May 2017, 3:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
612702
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
612702
Publications
Source NHS GMS was added to FGF8.
Promoted to version one after review within the genomics England curation team.
Phenotypes for FGF8 were set to Holoprosencephaly
This gene has been classified as Green List (High Evidence).
Phenotypes for FGF8 were set to 612702; holoprosencephaly
This gene has been classified as Green List (High Evidence).
FGF8 was added to Holoprosencephalypanel. Sources: Expert list
FGF8 was created by richardhywel