Clefting
Gene: CHD4
Comment on list classification: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistently found in patients with monoallelic CHD4 variants. Hence, this gene should be rated amber.Created: 15 Jun 2023, 7:13 p.m. | Last Modified: 15 Jun 2023, 7:13 p.m.
Panel Version: 4.15
PMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one patient (p.Gln715Ter) had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula.
In addition, 2 out of 10 patients with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288).
Sources: LiteratureCreated: 14 Jun 2023, 6:15 p.m. | Last Modified: 15 Jun 2023, 7:11 p.m.
Panel Version: 4.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sifrim-Hitz-Weiss syndrome, OMIM:617159
Publications
Gene: chd4 has been classified as Amber List (Moderate Evidence).
Gene: chd4 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green was removed from gene: CHD4.
Tag Q3_23_promote_green tag was added to gene: CHD4.
Gene: chd4 has been classified as Amber List (Moderate Evidence).
gene: CHD4 was added gene: CHD4 was added to Clefting. Sources: Literature Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD4 were set to 31388190; 37010288 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, OMIM:617159 Review for gene: CHD4 was set to GREEN