Clefting
Gene: ZC4H2
The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 2 May 2024, noon | Last Modified: 2 May 2024, noon
Panel Version: 5.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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.Created: 22 Jun 2023, 1:58 p.m. | Last Modified: 22 Jun 2023, 4:10 p.m.
Panel Version: 4.54
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: LiteratureCreated: 22 Jun 2023, 1:53 p.m. | Last Modified: 22 Jun 2023, 4:13 p.m.
Panel Version: 4.55
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Publications
Tag Q3_23_promote_green was removed from gene: ZC4H2.
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)
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)
Gene: zc4h2 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: ZC4H2.
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