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Clefting v5.3 ZC4H2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ZC4H2.
Clefting v5.3 ZC4H2 Sarah Leigh reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v5.2 ZC4H2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZC4H2.
Source NHS GMS was added to ZC4H2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Clefting v4.55 ZC4H2 Achchuthan Shanmugasundram changed review comment from: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate.

Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.
Sources: Literature; to: PMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate.

Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.
Sources: Literature
Clefting v4.55 ZC4H2 Achchuthan Shanmugasundram Mode of inheritance for gene: ZC4H2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting v4.54 ZC4H2 Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Changed 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 v4.54 ZC4H2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are ten patients reported with cleft palate. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are ten unrelated patients reported with cleft palate. Hence, this gene can be promoted to green rating in the next GMS update.
Clefting v4.54 ZC4H2 Achchuthan Shanmugasundram changed review comment from: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate.

Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.
Sources: Literature; to: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate.

Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.
Sources: Literature
Clefting v4.54 ZC4H2 Achchuthan Shanmugasundram changed review comment from: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate.
Sources: Literature; to: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate.

Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.
Sources: Literature
Clefting v4.54 ZC4H2 Achchuthan Shanmugasundram Classified gene: ZC4H2 as Amber List (moderate evidence)
Clefting v4.54 ZC4H2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are ten patients reported with cleft palate. Hence, this gene can be promoted to green rating in the next GMS update.
Clefting v4.54 ZC4H2 Achchuthan Shanmugasundram Gene: zc4h2 has been classified as Amber List (Moderate Evidence).
Clefting v4.53 ZC4H2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ZC4H2.
Clefting v4.53 ZC4H2 Achchuthan Shanmugasundram gene: ZC4H2 was added
gene: ZC4H2 was added to Clefting. Sources: Literature
Mode of inheritance for gene: ZC4H2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZC4H2 were set to 31206972; 37010288
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Review for gene: ZC4H2 was set to GREEN
Added comment: PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients were had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)

DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate.
Sources: Literature