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Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Classified gene: ADPRHL2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.67 ADPRHL2 Crystle Lee gene: ADPRHL2 was added
gene: ADPRHL2 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)
Review for gene: ADPRHL2 was set to GREEN
Added comment: Peripheral (sensori-)motor axonal neuropathy is a feature of this progressive neurodegenerative disorder. >5 families have been reported.
Sources: Expert Review