Holoprosencephaly - NOT chromosomal

Gene: DLL1

I don't know

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 evidence

Created: 29 Jul 2019, 1:17 p.m. | Last Modified: 29 Jul 2019, 1:17 p.m.

Panel Version: 1.17

Comment when marking as ready: Two unrelated cases identified at present. Amber therefore.

Created: 30 May 2017, 3:55 p.m.

Comment on list classification: two reported cases in PMID 27363716. One further case found in PMID 21196490. However, the mutation, inheritance from father and form of HPE is identical and it is from the same research group. This could therefore reflect the same case. Watchlist at present.

Created: 30 May 2017, 3:54 p.m.

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 27363716