Holoprosencephaly - NOT chromosomal
Gene: SUFU
Discussed in the GMS Neurology Specialist Test Group webex call 11th July 2019 for possible upgrading from Amber to Green, Astrid Weber (Liverpool Womens NHS Foundation Trust) said they would would add the evidence for further review. Subsequently, PMID:27363616 and PMID:2977100 were added and reviewed again, and was agreed that they are established causative genes only. The same DLL1 variant was found in two affected individuals but only a VUS in a third (inherited from a normal parent and with a variant in a different gene also). A SUFU variant was only found in one patient. Astrid Weber agreed that neither of these meet criteria for green status. In light of this, it it was decided to leave DLL1 and SUFU as Amber, whilst awaiting further evidenceCreated: 29 Jul 2019, 1:16 p.m. | Last Modified: 29 Jul 2019, 1:16 p.m.
Panel Version: 1.17
Comment on list classification: See PMID 27363716. One case reported. Unable to consider diagnostic grade on the current level of evidence.Created: 30 May 2017, 3:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
109400
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
109400
Publications
Phenotypes for gene: SUFU were changed from Basal cell nevus syndrome, 109400 to Basal cell nevus syndrome, OMIM:109400
Source NHS GMS was added to SUFU.
Tag watchlist tag was added to gene: SUFU.
Phenotypes for gene: SUFU were changed from 109400 to Basal cell nevus syndrome, 109400
Publications for gene: SUFU were set to 27363716
Promoted to version one after review within the genomics England curation team.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SUFU was added to Holoprosencephalypanel. Sources: Expert Review
SUFU was created by richardhywel