Activity
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12 actions
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| Hereditary neuropathy or pain disorder v6.148 | DMXL2 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: DMXL2. Tag Q3_24_NHS_review was removed from gene: DMXL2. |
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| Hereditary neuropathy or pain disorder v6.148 | DMXL2 | Sarah Leigh edited their review of gene: DMXL2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | DMXL2 |
Sarah Leigh Source NHS GMS was added to DMXL2. Source Expert Review Green was added to DMXL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.61 | DMXL2 | Sarah Leigh Added comment: Comment on phenotypes: Three brothers from a single family with Polyendocrine-polyneuropathy syndrome, OMIM:616113;polyendocrine-polyneuropathy syndrome MONDO:0014497, were homozygous for a DMXL2 variant (PMID: 25248098). Segregation between the variants and the condition was also reported in this study. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.61 | DMXL2 | Sarah Leigh Phenotypes for gene: DMXL2 were changed from ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858 to Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.60 | DMXL2 | Sarah Leigh reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.56 | DMXL2 | Sarah Leigh Publications for gene: DMXL2 were set to 31688942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.52 | DMXL2 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DMXL2. Tag Q3_24_NHS_review tag was added to gene: DMXL2. |
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| Hereditary neuropathy or pain disorder v6.52 | DMXL2 | Sarah Leigh Phenotypes for gene: DMXL2 were changed from developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features to ?Polyendocrine-polyneuropathy syndrome, OMIM:616113; polyendocrine-polyneuropathy syndrome MONDO:0014497; Developmental and epileptic encephalopathy 81, OMIM:618663; developmental and epileptic encephalopathy, 81, MONDO:0032858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.50 | DMXL2 | Sarah Leigh Classified gene: DMXL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.50 | DMXL2 | Sarah Leigh Gene: dmxl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | DMXL2 |
Alexander Rossor gene: DMXL2 was added gene: DMXL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMXL2 were set to 31688942 Phenotypes for gene: DMXL2 were set to developmental encephalopathy; deafness; mild peripheral polyneuropathy; dysmorphic features Penetrance for gene: DMXL2 were set to Complete Review for gene: DMXL2 was set to GREEN Added comment: Sources: Expert list |
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