Clefting
Gene: CNTNAP1
Comment on list classification: There is sufficient evidence (3 unrelated cases) for the association of biallelic variants from this gene with cleft palate. Hence, it can be promoted to green rating at the next major update.Created: 15 Jun 2023, 10:29 a.m. | Last Modified: 15 Jun 2023, 10:29 a.m.
Panel Version: 4.10
PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter).
PMID:29511323/ 37010288 - There is one patient reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G>A/ p.Trp896Ter & c.1861C>T/ p.Arg621Ter) had cleft palate from DECIPHER database.
PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate.
Sources: LiteratureCreated: 15 Jun 2023, 10:27 a.m. | Last Modified: 16 Jun 2023, 9:48 a.m.
Panel Version: 4.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Publications
Gene: cntnap1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: CNTNAP1.
gene: CNTNAP1 was added gene: CNTNAP1 was added to Clefting. Sources: Literature Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 28374019; 29511323; 29882456; 37010288 Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Review for gene: CNTNAP1 was set to GREEN