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Fetal anomalies v6.112 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: 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.

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).; to: 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).
Fetal anomalies v6.112 DISP1 Ida Ertmanska commented on gene: DISP1: 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.
Fetal anomalies v6.112 DISP1 Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

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).; to: 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.

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).
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.101 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

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). 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).; to: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

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).
Fetal anomalies v6.101 DISP1 Ida Ertmanska reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: Holoprosencephaly 10, OMIM:621143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DISP1.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly 10, OMIM:62114 to Holoprosencephaly 10, OMIM:621143
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: DISP1.
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly 10, OMIM:62114
Fetal anomalies v1.859 DISP1 Arina Puzriakova commented on gene: DISP1: 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.
Fetal anomalies v1.859 DISP1 Arina Puzriakova Tag watchlist tag was added to gene: DISP1.
Fetal anomalies v1.859 DISP1 Arina Puzriakova Tag gene-checked tag was added to gene: DISP1.
Fetal anomalies v1.836 DISP1 Arina Puzriakova Tag for-review was removed from gene: DISP1.
Fetal anomalies v1.836 DISP1 Arina Puzriakova commented on gene: DISP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 DISP1 Arina Puzriakova Source Expert Review Green was added to DISP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Classified gene: DISP1 as Amber List (moderate evidence)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Added comment: 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)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Gene: disp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.361 DISP1 Arina Puzriakova Tag for-review tag was added to gene: DISP1.
Fetal anomalies v1.226 DISP1 Rhiannon Mellis 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
Added comment: 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