Activity
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12 actions
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| Hereditary neuropathy or pain disorder v6.148 | CNTNAP1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: CNTNAP1. Tag Q3_24_NHS_review was removed from gene: CNTNAP1. |
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| Hereditary neuropathy or pain disorder v6.148 | CNTNAP1 | Sarah Leigh commented on gene: CNTNAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | CNTNAP1 |
Sarah Leigh Source Expert Review Green was added to CNTNAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.36 | CNTNAP1 | Sarah Leigh Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to neuropathy, congenital hypomyelinating, 3, MONDO:0020766; Hypomyelinating neuropathy, congenital, 3, OMIM:618186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.20 | CNTNAP1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CNTNAP1. Tag Q3_24_NHS_review tag was added to gene: CNTNAP1. |
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| Hereditary neuropathy or pain disorder v6.20 | CNTNAP1 | Sarah Leigh reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27668699, 28374019, 27818385, 27782105, 29511323; Phenotypes: neuropathy, congenital hypomyelinating, 3, MONDO:0020766, Hypomyelinating neuropathy, congenital, 3, OMIM:618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | CNTNAP1 | Alexander Rossor edited their review of gene: CNTNAP1: Added comment: Multiple affected individuals. Now that R78 panel includes complex phenotypes should be green and on panel; Changed publications to: 28374019: 29511323: 27668699: 27782105:; Changed phenotypes to: arthrogryposis, developmental dleay, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.35 | CNTNAP1 | Louise Daugherty commented on gene: CNTNAP1: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - congenital hypomyelinating neuropathy, arthrogryposis, severe dev delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.35 | CNTNAP1 | Louise Daugherty Classified gene: CNTNAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.35 | CNTNAP1 | Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.35 | CNTNAP1 | Louise Daugherty Gene: cntnap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | CNTNAP1 |
Ellen McDonagh gene: CNTNAP1 was added gene: CNTNAP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186 |
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