Hereditary Neuropathy_CMT - isolated
Gene: MED25
DISPUTED by ClinGen CMT expert panel - https://search.clinicalgenome.org/CCID:005366Created: 9 Apr 2024, 12:31 a.m. | Last Modified: 9 Apr 2024, 12:31 a.m.
Panel Version: 1.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease type 2B2 MONDO:0011570
Publications
Alternate cause for CMT2B2 identified in the original Costa Rican family (PMID: 19290556) in PNKP (PMID: 30039206).
Sources: Expert listCreated: 23 Mar 2020, 2:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Publications
Tag disputed tag was added to gene: MED25.
Gene: med25 has been classified as Red List (Low Evidence).
gene: MED25 was added gene: MED25 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert list Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 19290556; 30039206 Phenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Review for gene: MED25 was set to RED