Activity
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13 actions
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| DDG2P v8.2 | FRYL |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Julie Evans and detailed in my review below, there is only evidence available from a single publication to support the gene-disease association. The limitations listed including variability of phenotypes, large number of LoF variants in gnomAD 4.1.1 and the evidence from drosophila model not translating to humans due to humans having two paralogs suggest that this gene should not be rated amber. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Note that it was previously agreed with the G2P team and the NHSE that all genes with G2P classification of moderate and abiove should be rated green on this panel. Hence, the rating should stay green, pending updates from G2P.; to: Comment on list classification: As reviewed by Julie Evans and detailed in my review below, there is evidence available from only a single publication to support the gene-disease association. The limitations listed including variability of phenotypes, large number of LoF variants in gnomAD 4.1.1 and the evidence from drosophila model not translating to humans due to humans having two paralogs suggest that this gene should not be rated green. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Note that it was previously agreed with the G2P team and the NHSE that all genes with G2P classification of 'moderate' and above should be rated green on this panel. Hence, the rating should stay green, pending updates from G2P. |
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| DDG2P v8.2 | FRYL |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julie Evans and detailed in my review below, there is only evidence available from a single publication to support the gene-disease association. The limitations listed including variability of phenotypes, large number of LoF variants in gnomAD 4.1.1 and the evidence from drosophila model not translating to humans due to humans having two paralogs suggest that this gene should not be rated amber. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Note that it was previously agreed with the G2P team and the NHSE that all genes with G2P classification of moderate and abiove should be rated green on this panel. Hence, the rating should stay green, pending updates from G2P. |
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| DDG2P v7.7 | GNAS | Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v7.6 | GNAS | Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v7.5 | GNAS | Arina Puzriakova commented on gene: GNAS: The mode of inheritance of this gene has been updated to Unknown following NHS Genomic Medicine Service approval. This mode of inheritance enables inclusive tiering across all segregation patterns for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.4 | PDE1B |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype (G2P) on their DDG2P panel. PDE1B is currently not associated with any disease models in G2P and therefore the grey rating will be maintained on this panel at this time. PDE1B has already been curated on other GMS panels with a green recommendation (Childhood onset dystonia, chorea or related movement disorder and Ataxia and cerebellar anomalies) to capture the evidence and ensure inclusion of this gene in the NHS GMS. |
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| DDG2P v6.2 | ELFN1 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'ELFN1-related intellectual disability and epilepsy' is currently classified as 'limited' (https://www.ebi.ac.uk/gene2phenotype/gene/ELFN1) which maps to the PanelApp rating of Red - therefore this rating will be maintained on this panel. This gene has been added to other GMS panels with a green recommendation (ID and epilepsy) to capture the evidence and ensure inclusion of ELFN1 in the NHS GMS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHS | Achchuthan Shanmugasundram reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15623749, 14564667, 458526, 2246772, 19414485, 11836358; Phenotypes: NANCE-HORAN SYNDROME, OMIM:302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NHS | Achchuthan Shanmugasundram Publications for gene: NHS were updated from 19414485; 11836358 to 15623749; 14564667; 458526; 2246772; 19414485; 11836358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.63 | DMPK_CTG |
Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source NHS GMS was added to STR: DMPK_CTG. |
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| DDG2P v0.2 | NHS | Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NHS |
Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED 302200 for gene: NHS Publications for gene NHS were changed from 15623749; 458526; 14564667; 2246772 to 19414485; 11836358 |
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| DDG2P v0.1 | NHS |
Rebecca Foulger gene: NHS was added gene: NHS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NHS were set to 15623749; 458526; 14564667; 2246772 Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME 302350 |
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