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  2. Hereditary Neuropathy_CMT - isolated
  3. MED25
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Hereditary Neuropathy_CMT - isolated

Gene: MED25

Red List (low evidence)
MED25 (mediator complex subunit 25)
EnsemblGeneIds (GRCh38): ENSG00000104973
EnsemblGeneIds (GRCh37): ENSG00000104973
OMIM: 610197, Gene2Phenotype
MED25 is in 10 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Created: 19 Apr 2024, 6:42 a.m.
Last Modified: 19 Apr 2024, 6:42 a.m.
Panel version: 1.46

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

DISPUTED by ClinGen CMT expert panel - https://search.clinicalgenome.org/CCID:005366
Created: 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

  • https://search.clinicalgenome.org/CCID:005366

Created: 9 Apr 2024, 12:31 a.m.
Last Modified: 9 Apr 2024, 12:31 a.m.
Panel version: 1.39

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Alternate cause for CMT2B2 identified in the original Costa Rican family (PMID: 19290556) in PNKP (PMID: 30039206).
Sources: Expert list
Created: 23 Mar 2020, 2:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 2B2 MIM#605589

Publications

Created: 23 Mar 2020, 2:49 a.m.

Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B2 MIM#605589
Tags
disputed
OMIM
610197
Clinvar variants
Variants in MED25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: MED25.

4 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med25 has been classified as Red List (Low Evidence).

23 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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