Arthrogryposis
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
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)
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)
Contractures are a recognised feature.
Sources: Expert listCreated: 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 Green
- Phenotypes
-
- MED12-related disorders
- Opitz-Kaveggia syndrome, OMIM:305450
- Ohdo syndrome, X-linked, OMIM:300895
- Lujan-Fryns syndrome, OMIM:309520
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- Non-syndromic familial congenital anorectal malformations
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Familial Hirschsprung Disease
- Clefting
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating was removed from gene: MED12.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MED12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: med12 has been classified as Amber List (Moderate Evidence).
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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MED12 were set to 20301719
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating tag was added to gene: MED12.
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