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| DDG2P v3.12 | ADPRHL2 | Achchuthan Shanmugasundram reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401461, 30388405; Phenotypes: Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADPRHL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADPRHL2. Publications for gene: ADPRHL2 were updated from 30388405; 30401461 to 30401461; 30388405 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v2.22 | ADPRHL2 | Sarah Leigh Added comment: Comment on phenotypes: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome;Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.22 | ADPRHL2 | Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.0 | ADPRHL2 | Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.0 | ADPRHL2 | Louise Daugherty commented on gene: ADPRHL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | ADPRHL2 | Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | ADPRHL2 |
Rebecca Foulger gene: ADPRHL2 was added gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30388405; 30401461 Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy |
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