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  3. MED12
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Arthrogryposis

Gene: MED12

Green List (high evidence)
MED12 (mediator complex subunit 12)
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Contractures are a recognised feature.
Created: 11 Jul 2020, 8:27 a.m. | Last Modified: 11 Jul 2020, 8:27 a.m.
Panel Version: 0.148

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
MED12-related disorders

Publications

Created: 11 Jul 2020, 8:27 a.m.
Last Modified: 11 Jul 2020, 8:27 a.m.
Panel version: 0.148

History Filter Activity

1 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med12 has been classified as Green List (High Evidence).

1 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED12 were changed from to MED12-related disorders

1 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED12 were set to

1 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED12 was added gene: MED12 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MED12 was set to Unknown