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Hereditary neuropathy or pain disorder v6.148 DHH Sarah Leigh Tag Q3_24_promote_green was removed from gene: DHH.
Tag Q3_24_NHS_review was removed from gene: DHH.
Hereditary neuropathy or pain disorder v6.148 DHH Sarah Leigh edited their review of gene: DHH: 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 DHH Sarah Leigh Source Expert Review Green was added to DHH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.49 DHH Sarah Leigh Classified gene: DHH as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.49 DHH Sarah Leigh Gene: dhh has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DHH.
Tag Q3_24_NHS_review tag was added to gene: DHH.
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh edited their review of gene: DHH: Added comment: DHH variants have been associated with 46XY gonadal dysgenesis with minifascicular neuropathy (OMIM:607080). At least five DHH variants have been associated with in five unrelated cases of OMIM:607080.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh Added comment: Comment on phenotypes: DHH variants are also associated with 46XY sex reversal 7 (OMIM:233420). Neuropathy does not appear to be associated with this condition.
Hereditary neuropathy or pain disorder v6.48 DHH Sarah Leigh Phenotypes for gene: DHH were changed from to 46XY gonadal dysgenesis with minifascicular neuropathy, OMIM:607080; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766
Hereditary neuropathy or pain disorder v6.46 DHH Sarah Leigh Publications for gene: DHH were set to
Hereditary neuropathy or pain disorder v6.45 DHH Sarah Leigh Mode of inheritance for gene: DHH was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 DHH Alexander Rossor edited their review of gene: DHH: Added comment: Multipel reports of this syndrome causing peripheral neuropathy. Should be added to panel; Changed rating: GREEN; Changed publications to: 29471294: 11891836: 11017805: 25927242: 33107133; Changed phenotypes to: gonadal dysgenesis, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v0.1 DHH Ellen McDonagh gene: DHH was added
gene: DHH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,UKGTN,South West GLH
Mode of inheritance for gene: DHH was set to