Holoprosencephaly - NOT chromosomal
Gene: DISP1Added the Q2_21_rating tag so that it is clear that this gene is being assessed for its rating.Created: 6 Oct 2022, 1:35 p.m. | Last Modified: 6 Oct 2022, 1:35 p.m.
Panel Version: 2.30
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 5:36 p.m. | Last Modified: 15 Mar 2022, 5:36 p.m.
Panel Version: 2.27
The Q2_21_expert_review tag has been added, based on the review from Zornizta Stark and the views of Helen Brittain (GEL Clinical Fellow), a review of the evidence is requested from Test Evaluation Working Group via NHSE.Created: 22 Jun 2021, 4:15 p.m. | Last Modified: 22 Jun 2021, 4:15 p.m.
Panel Version: 2.17
Two individuals originally reported with truncating variants in this gene and HPE but variants inherited from unaffected parents; another case report suggesting digenic/AR inheritance; and another case report of small deletion and dev delay but no HPE, inherited from unaffected parent.Created: 24 Apr 2021, 7:56 a.m. | Last Modified: 24 Apr 2021, 7:56 a.m.
Panel Version: 2.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly
Publications
As 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 on list classification: 3 cases in PMID 27363716 (2 missense, 1 nonsense)Created: 30 May 2017, 3:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Tag Q2_21_rating was removed from gene: DISP1. Tag Q2_21_expert_review was removed from gene: DISP1.
Tag Q2_21_rating tag was added to gene: DISP1.
Tag gene-checked tag was added to gene: DISP1.
Tag to_be_confirmed_NHSE tag was added to gene: DISP1.
Phenotypes for gene: DISP1 were changed from Holoprosencephaly to holoprosencephaly MONDO:0016296
Tag Q2_21_expert_review tag was added to gene: DISP1.
Publications for gene: DISP1 were set to 27363716
Source NHS GMS was added to DISP1.
Promoted to version one after review within the genomics England curation team.
This gene has been classified as Green List (High Evidence).
Phenotypes for DISP1 were set to Holoprosencephaly
This gene has been classified as Green List (High Evidence).
DISP1 was added to Holoprosencephalypanel. Sources: Expert list
DISP1 was created by richardhywel