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Hereditary neuropathy v1.383 PNKP Sarah Leigh Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy to ?Charcot-Marie-Tooth disease, type 2B2 605589; Ataxia-oculomotor apraxia 4 OMIM:616267; Microcephaly, seizures, and developmental delay OMIM:613402
Hereditary neuropathy v1.382 PNKP Sarah Leigh Classified gene: PNKP as Green List (high evidence)
Hereditary neuropathy v1.382 PNKP Sarah Leigh Gene: pnkp has been classified as Green List (High Evidence).
Hereditary neuropathy v1.381 PNKP Sarah Leigh reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066567; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.381 PNKP Dmitrijs Rots changed review comment from: In PMID: 30039206 reported a homozygous nonsense variant in a large Costa Rican family segregating with CMT2 phenotype. Additional 5 cases with compound heterozygous nonsense variants and CMT2 phenotype also reported. Some patients have Ataxia, but not oculomotor apraxia or Microcephaly, seizures, and developmental delay.; to: In PMID: 30039206 reported a homozygous nonsense variant in a large Costa Rican family segregating with CMT2 phenotype. Additional 5 cases with compound heterozygous nonsense variants and CMT2 phenotype also reported. Some patients have Ataxia, but not oculomotor apraxia or Microcephaly, seizures, and developmental delay.
Hereditary neuropathy v1.381 PNKP Dmitrijs Rots reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30039206; Phenotypes: Polyneuropathy, ataxia; Mode of inheritance: None; Current diagnostic: yes
Hereditary neuropathy v1.353 PNKP Louise Daugherty Source Expert Review Amber was added to PNKP.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.352 PNKP Louise Daugherty commented on gene: PNKP: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.320 PNKP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.300 PNKP Louise Daugherty commented on gene: PNKP: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.300 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.176 PNKP Louise Daugherty Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy
Hereditary neuropathy v1.175 PNKP Louise Daugherty Publications for gene: PNKP were set to
Hereditary neuropathy v1.174 PNKP Louise Daugherty Mode of inheritance for gene: PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 PNKP Alexander Rossor reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 30039206; Phenotypes: Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.119 PNKP Louise Daugherty Source NHS GMS was added to PNKP.
Hereditary neuropathy v1.118 PNKP Louise Daugherty gene: PNKP was added
gene: PNKP was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: PNKP was set to