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Hereditary neuropathy or pain disorder v6.148 HPDL Sarah Leigh Tag Q3_24_promote_green was removed from gene: HPDL.
Tag Q3_24_NHS_review was removed from gene: HPDL.
Hereditary neuropathy or pain disorder v6.148 HPDL Sarah Leigh reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 HPDL Sarah Leigh Source NHS GMS was added to HPDL.
Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.141 HPDL Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HPDL.
Hereditary neuropathy or pain disorder v5.104 HPDL Eleanor Williams Tag Q3_24_promote_green tag was added to gene: HPDL.
Tag Q3_24_NHS_review tag was added to gene: HPDL.
Hereditary neuropathy or pain disorder v5.104 HPDL Eleanor Williams Phenotypes for gene: HPDL were changed from developmental delay; spastic paraplegia; peripheral neuropathy to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Spastic paraplegia 83, autosomal recessive, OMIM:619027; neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; spastic paraplegia 83, autosomal recessive, MONDO:0033614
Hereditary neuropathy or pain disorder v5.103 HPDL Eleanor Williams Classified gene: HPDL as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.103 HPDL Eleanor Williams Added comment: Comment on list classification: On recommendation of clinical expert this gene has been promoted to amber and has been tagged for promotion to green subject to GMS review.
Hereditary neuropathy or pain disorder v5.103 HPDL Eleanor Williams Gene: hpdl has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.102 HPDL Eleanor Williams reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Spastic paraplegia 83, autosomal recessive, OMIM:619027, neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 HPDL Alexander Rossor gene: HPDL was added
gene: HPDL was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to developmental delay; spastic paraplegia; peripheral neuropathy
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: 3 had peripheral neuropathy
Sources: Expert list