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Fetal anomalies

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

3 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. Gene tagged for expert review to decide the appropriate MOI.
Created: 28 Oct 2025, 9:59 a.m. | Last Modified: 28 Oct 2025, 9:59 a.m.
Panel Version: 6.112
PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Created: 17 Oct 2025, 4:17 p.m. | Last Modified: 28 Oct 2025, 9:59 a.m.
Panel Version: 6.112

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Holoprosencephaly 10, OMIM:621143

Publications

Created: 17 Oct 2025, 4:17 p.m.
Last Modified: 28 Oct 2025, 9:59 a.m.
Panel version: 6.112

Arina Puzriakova (Genomics England Curator)

Added 'watchlist' tag as inclusion of this gene on the R85 Holoprosencephaly panel is currently under GMS review (TBC_NHSE) and the final decision should also be reflected on this panel once determined.
Created: 3 May 2022, 11:19 a.m. | Last Modified: 3 May 2022, 11:19 a.m.
Panel Version: 1.859
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 11:46 a.m. | Last Modified: 1 Feb 2021, 11:46 a.m.
Panel Version: 1.362
Created: 1 Feb 2021, 11:46 a.m.
Last Modified: 1 Feb 2021, 11:46 a.m.
Panel version: 1.859

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebral malformations; Holoprosencephaly
Sources: Expert list
Created: 29 Jan 2021, 11:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly

Publications

Created: 29 Jan 2021, 11:19 a.m.

Panel version: 1.226

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Holoprosencephaly 10, OMIM:621143
Tags
Q3_25_MOI Q3_25_expert_review
OMIM
607502
Clinvar variants
Variants in DISP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_MOI tag was added to gene: DISP1.

28 Oct 2025, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_25_expert_review tag was added to gene: DISP1.

28 Apr 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: DISP1.

28 Apr 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DISP1 were changed from Holoprosencephaly 10, OMIM:62114 to Holoprosencephaly 10, OMIM:621143

28 Apr 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: DISP1.

28 Apr 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly 10, OMIM:62114

3 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: DISP1.

3 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: DISP1.

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: DISP1.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to DISP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: disp1 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: DISP1.

29 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: DISP1 was added gene: DISP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DISP1 were set to 27363716 Phenotypes for gene: DISP1 were set to Holoprosencephaly Review for gene: DISP1 was set to GREEN