Activity
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35 actions
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| Holoprosencephaly - NOT chromosomal v5.6 | DISP1 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.6 | DISP1 | Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly 10, OMIM:621143 to Holoprosencephaly 10, OMIM:621143; holoprosencephaly 10, MONDO:0976262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.5 | DISP1 | Achchuthan Shanmugasundram Publications for gene: DISP1 were set to 27363716; 19184110; 26748417; 23542665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.4 | DISP1 | Achchuthan Shanmugasundram Mode of inheritance for gene: DISP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 | Ida Ertmanska commented on gene: DISP1: Comment on list classification: As reviewed by Nour Elkhateeb, there are at least 25 individuals reported in literature with DISP1 variants, who presented with Holoprosencephaly of variable severity. Hence, DISP1 should be rated green on the Holoprosencephaly - NOT chromosomal panel. The MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 |
Ida Ertmanska changed review comment from: PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7). As 5 out of 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). 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). |
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| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 |
Ida Ertmanska changed review comment from: PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7). As 5 out of 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. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7). As 5 out of 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). |
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| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 | Ida Ertmanska edited their review of gene: DISP1: Changed phenotypes to: Holoprosencephaly 10, OMIM:621143, holoprosencephaly 10, MONDO:0976262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 | Ida Ertmanska reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 | Nour Elkhateeb reviewed gene: DISP1: Rating: ; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: holoprosencephaly; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.3 | DISP1 | Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from holoprosencephaly MONDO:0016296 to Holoprosencephaly 10, OMIM:621143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v4.9 | DISP1 | Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v4.9 | DISP1 | Arina Puzriakova changed review comment from: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.; to: The rating of this gene has been demoted to Amber following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v4.9 | DISP1 | Arina Puzriakova reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v4.8 | DISP1 |
Arina Puzriakova Source Expert Review Amber was added to DISP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Holoprosencephaly - NOT chromosomal v4.4 | DISP1 |
Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: DISP1. Tag Q2_21_expert_review was removed from gene: DISP1. |
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| Holoprosencephaly - NOT chromosomal v2.30 | DISP1 | Eleanor Williams commented on gene: DISP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.30 | DISP1 | Eleanor Williams Tag Q2_21_rating tag was added to gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.27 | DISP1 | Arina Puzriakova Tag gene-checked tag was added to gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.27 | DISP1 | Sarah Leigh commented on gene: DISP1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.27 | DISP1 | Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.18 | DISP1 | Sarah Leigh Phenotypes for gene: DISP1 were changed from Holoprosencephaly to holoprosencephaly MONDO:0016296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.17 | DISP1 | Sarah Leigh reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.17 | DISP1 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.17 | DISP1 | Sarah Leigh Publications for gene: DISP1 were set to 27363716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.16 | DISP1 | Zornitza Stark reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v1.21 | DISP1 | Louise Daugherty Source NHS GMS was added to DISP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v1.20 | DISP1 | Louise Daugherty commented on gene: DISP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal | DISP1 | Helen Brittain marked DISP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal | DISP1 | Helen Brittain classified DISP1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal | DISP1 | Helen Brittain commented on DISP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal | DISP1 | Lara Menzies reviewed DISP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal | DISP1 | Richard Scott added DISP1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal | DISP1 | Richard Scott reviewed DISP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||