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Arthrogryposis v3.154 | MED12 | Ivone Leong Tag Q3_21_rating was removed from gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.154 | MED12 | Sarah Leigh commented on gene: MED12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.153 | MED12 |
Ivone Leong Source Expert Review Green was added to MED12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Arthrogryposis v3.122 | MED12 | Eleanor Williams reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.112 | MED12 | Arina Puzriakova Classified gene: MED12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.112 | MED12 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.112 | MED12 | Arina Puzriakova Gene: med12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.111 | MED12 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.110 | MED12 | Arina Puzriakova Publications for gene: MED12 were set to 20301719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.109 | MED12 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: MED12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.109 | MED12 | Arina Puzriakova reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 565138, 7201743, 16700052, 17369503, 19938245, 25790323; Phenotypes: Opitz-Kaveggia syndrome, OMIM:305450, Ohdo syndrome, X-linked, OMIM:300895, Lujan-Fryns syndrome, OMIM:309520; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v3.11 | MED12 |
Zornitza Stark 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 Added comment: Contractures are a recognised feature. Sources: Expert list |