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Hereditary neuropathy NOT PMP22 copy number

Gene: PCYT2

No list

PCYT2 (phosphate cytidylyltransferase 2, ethanolamine)
EnsemblGeneIds (GRCh38): ENSG00000185813
EnsemblGeneIds (GRCh37): ENSG00000185813
OMIM: 602679, Gene2Phenotype
PCYT2 is in 7 panels

1 review

Dmitrijs Rots (RadboudUMC)

I don't know

Two brother with axonal neuropathy reported in PMID: 35243002. In the same study, after reviewing previously published cases, other individuals (2/10) had sensory deficit / neuropathy: "Of 5 previously reported adult patients (age range of 20–59 years),2-6 nerve conduction studies were performed in 2 of them and reported as normal.3,4 Clinically, one of them had hypopallesthesia of the ankles,4 and the other had loss of vibration sense in the lower limbs and mild loss of proprioception in the feet".
Sources: Literature
Created: 19 Mar 2022, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

19 Mar 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications

Dmitrijs Rots (RadboudUMC)

gene: PCYT2 was added gene: PCYT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to PMID: 35243002 Review for gene: PCYT2 was set to AMBER