Hereditary Neuropathy - complex
Gene: PNKP
Well established gene-disease association with neuropathy a prominent feature.
CMT2B2 is characterised by an autosomal recessive sensorineural axonal peripheral neuropathy that manifests as distal muscle weakness and atrophy and distal sensory impairment.Created: 8 Aug 2023, 3:04 a.m. | Last Modified: 8 Aug 2023, 3:04 a.m.
Panel Version: 0.215
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267)
Publications
Gene: pnkp has been classified as Green List (High Evidence).
Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN to Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267)
Publications for gene: PNKP were set to
gene: PNKP was added gene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN