Holoprosencephaly

Gene: DISP1

Green List (high evidence)

DISP1 (dispatched RND transporter family member 1)
EnsemblGeneIds (GRCh38): ENSG00000154309
EnsemblGeneIds (GRCh37): ENSG00000154309
OMIM: 607502, Gene2Phenotype
DISP1 is in 4 panels

6 reviews

Sarah Leigh (Genomics England Curator)

I don't know

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

Zornitza Stark (Australian Genomics)

I don't know

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

Louise Daugherty (Genomics England Curator)

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 Green
Created: 29 Jul 2019, 2:13 p.m. | Last Modified: 29 Jul 2019, 2:13 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment on list classification: 3 cases in PMID 27363716 (2 missense, 1 nonsense)
Created: 30 May 2017, 3:45 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 Green
  • Expert list
Phenotypes
  • holoprosencephaly MONDO:0016296
Tags
Q2_21_expert_review
OMIM
607502
Clinvar variants
Variants in DISP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DISP1 were changed from Holoprosencephaly to holoprosencephaly MONDO:0016296

28 Apr 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: DISP1.

28 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DISP1 were set to 27363716

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DISP1.

31 May 2017, Gel status: 4

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: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for DISP1 were set to Holoprosencephaly

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Dec 2016, Gel status: 0

Created

Richard Scott (Genomics England Curator)

DISP1 was created by richardhywel

2 Dec 2016, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

DISP1 was added to Holoprosencephalypanel. Sources: Expert list