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Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Deleted their comment
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Deleted their comment
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Deleted their comment
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence)
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber.
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Deleted their comment
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence)
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber.
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence)
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber.
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Classified gene: SMARCB1 as Amber List (moderate evidence)
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber.
Clefting v4.74 SMARCB1 Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Clefting v4.73 SMARCB1 Achchuthan Shanmugasundram Classified gene: SMARCB1 as Red List (low evidence)
Clefting v4.73 SMARCB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are 3 unrelated cases in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. Hence, this gene should be rated amber.
Clefting v4.73 SMARCB1 Achchuthan Shanmugasundram Gene: smarcb1 has been classified as Red List (Low Evidence).
Clefting v4.72 SMARCB1 Achchuthan Shanmugasundram gene: SMARCB1 was added
gene: SMARCB1 was added to Clefting. Sources: Literature
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCB1 were set to 25168959; 37010288
Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, OMIM:614608
Review for gene: SMARCB1 was set to AMBER
Added comment: PMID:25168959 - Two of ten patients reported with Coffin-Siris syndrome and heterozygous variants in SMARCB1 had cleft palate.

DECIPHER database - One of 13 patients identified with heterozygous sequence variants in SMARCB1 had cleft palate.
Sources: Literature