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Clefting v3.6 MED12 Eleanor Williams commented on gene: MED12: The mode of inheritance has been left as 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' with agreement from the Genomics Unit at NHSE.
Clefting v3.5 MED12 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: MED12.
Clefting v3.5 MED12 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Clefting v3.5 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Clefting v3.4 MED12 Achchuthan Shanmugasundram Source NHS GMS was added to MED12.
Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v2.50 MED12 Eleanor Williams Tag Q3_21_MOI tag was added to gene: MED12.
Clefting v2.50 MED12 Eleanor Williams Tag Skewed X-inactivation tag was added to gene: MED12.
Clefting v2.50 MED12 Eleanor Williams Added comment: Comment on mode of inheritance: X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.
Clefting v2.50 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting v2.49 MED12 Eleanor Williams Tag Q3_21_expert_review tag was added to gene: MED12.
Clefting v2.44 MED12 Eleanor Williams Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520; Opitz-Kaveggia syndrome, 305450; OKS; submucous cleft palate to Hardikar syndrome, OMIM:612726; cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997
Clefting v2.43 MED12 Eleanor Williams Publications for gene: MED12 were set to 12784307
Clefting v2.42 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting v2.41 MED12 Eleanor Williams Classified gene: MED12 as Amber List (moderate evidence)
Clefting v2.41 MED12 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber with the recommendation of a green rating following GMS review. There are 7 reported cases with cleft lip/palate and a variant identified in MED12.
Clefting v2.41 MED12 Eleanor Williams Gene: med12 has been classified as Amber List (Moderate Evidence).
Clefting v2.40 MED12 Eleanor Williams Tag Q3_21_rating tag was added to gene: MED12.
Clefting v2.40 MED12 Eleanor Williams reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM:612726, cholestasis-pigmentary retinopathy-cleft palate syndrome, MONDO:0012997; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting v2.24 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166; Phenotypes: Hardikar syndrome, OMIM #612726; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting MED12 Rebecca Foulger reviewed MED12