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Arthrogryposis

Gene: MED12

Amber List (moderate evidence)

MED12 (mediator complex subunit 12)
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 14 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Some (22) disease related cases reported in females (PMID: 33244165 - Polla et al 2021, PMID: 34079076 - Riccardi et al 2021, PMID: 33244166 - Li et al 2021) however no features of Arthrogryposis reported in these cases therefore the mode of inheritance should remain as X-LINKED: hemizygous mutation in males, biallelic mutations in females.
Created: 30 Sep 2021, 4:28 p.m. | Last Modified: 30 Sep 2021, 4:28 p.m.
Panel Version: 3.122

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

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 14 Jul 2021, 11:42 a.m. | Last Modified: 14 Jul 2021, 11:42 a.m.
Panel Version: 3.112
Variants in MED12 are associated with 3+ intellectual disability syndrome (Lujan-Fryns syndrome, Ohdo syndrome, and Opitz-Kaveggia syndrome are listed in OMIM). The overall phenotype for each syndrome seems to overlap but the criteria used to distinguish between the different syndromes can be different for each paper.

Contractures are most prominent in Opitz-Kaveggia (MIM# 305450) but have also been reported in cases of Ohdo (MIM# 300895) and Lujan-Fryns syndrome (MIM# 309520). Typically associated congenital hypotonia with joint hyperlaxity, progressing to joint contractures.
Created: 14 Jul 2021, 11:38 a.m. | Last Modified: 14 Jul 2021, 11:38 a.m.
Panel Version: 3.109

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

Phenotypes
Opitz-Kaveggia syndrome, OMIM:305450; Ohdo syndrome, X-linked, OMIM:300895; Lujan-Fryns syndrome, OMIM:309520

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Contractures are a recognised feature.
Sources: Expert list
Created: 11 Jul 2020, 8:28 a.m.

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

Phenotypes
MED12-related disorders

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • MED12-related disorders
  • Opitz-Kaveggia syndrome, OMIM:305450
  • Ohdo syndrome, X-linked, OMIM:300895
  • Lujan-Fryns syndrome, OMIM:309520
Tags
Q3_21_rating
OMIM
300188
Clinvar variants
Variants in MED12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: med12 has been classified as Amber List (Moderate Evidence).

14 Jul 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MED12 were changed from MED12-related disorders to MED12-related disorders; Opitz-Kaveggia syndrome, OMIM:305450; Ohdo syndrome, X-linked, OMIM:300895; Lujan-Fryns syndrome, OMIM:309520

14 Jul 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MED12 were set to 20301719

14 Jul 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: MED12.

11 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MED12 was added gene: MED12 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MED12 were set to 20301719 Phenotypes for gene: MED12 were set to MED12-related disorders Review for gene: MED12 was set to GREEN gene: MED12 was marked as current diagnostic