Holoprosencephaly

Gene: DLL1

Amber List (moderate evidence)

DLL1 (delta like canonical Notch ligand 1)
EnsemblGeneIds (GRCh38): ENSG00000198719
EnsemblGeneIds (GRCh37): ENSG00000198719
OMIM: 606582, Gene2Phenotype
DLL1 is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

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

Helen Brittain (Genomics England Curator)

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.

Lara Menzies (Great Ormond Street Hospital )

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Richard Scott (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Tags
watchlist
OMIM
606582
Clinvar variants
Variants in DLL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DLL1.

29 Jul 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DLL1 were set to 27363716; 21196490

31 May 2017, Gel status: 2

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for DLL1 were set to 27363716; 21196490

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Dec 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

DLL1 was added to Holoprosencephalypanel. Sources: Literature

2 Dec 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

DLL1 was created by richardhywel