Clefting
Gene: MED13L
Although there are more than three cases reported with clefting, this feature is not consistently found in patients with monoallelic variants in MED13L gene.
PMID:25137640 - Cleft palate was present in the patient reported with intellectual disability and dysmorphic facial features.
PMID:25712080 - Cleft palate was reported in a single case (patient 1) of MED13L haploinsufficiency.
PMID:29159987 - One of the two patients reported with de novo variants had repaired posterior cleft palate and the other had only high palate.
PMID:29511999 - One of 36 patients with monoallelic variants had posterior cleft palate.
DECIPHER database - Of 72 patients reported with heterozygous sequence variants, cleft palate was reported in two patients, cleft soft palate in one and submucous cleft hard palate in one patient (PMID:37010288).Created: 19 Jun 2023, 5:33 p.m. | Last Modified: 19 Jun 2023, 5:36 p.m.
Panel Version: 4.33
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
Publications
Utami et al. (2014, PMID 25137640) report a 14-year-old girl with delayed development, a balanced translocation interrupting MED13L, and dysmorphic facial features including cleft palate. PMID:25712080 (Cafiero et al., 2015) observe cleft palate in a single case (patient 1) of MED13L haploinsufficiency. Therefore 2 cases (including a translocation) so rated as Amber after discussion with clinical team.Created: 31 May 2017, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation and distinctive facial features with or without cardiac defects, 616789; MRFACD
Publications
Publications for gene: MED13L were set to 25137640; 25712080; 29159987; 29511999; 37010288
Publications for gene: MED13L were set to 25137640; 25712080; 29159987; 29511999; 37010288
Publications for gene: MED13L were set to 25137640; 25712080
Phenotypes for gene: MED13L were changed from Mental retardation and distinctive facial features with or without cardiac defects, 616789; MRFACD; Cleft palate to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789; MRFACD; Cleft palate
Victorian Clinical Genetics Services was added to MED13L. Panel: Clefting Phenotypes for gene MED13L were set to Mental retardation and distinctive facial features with or without cardiac defects, 616789, MRFACD, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
MED13L was created by ellenmcdonagh
MED13L was added to Cleftingpanel. Sources: Expert Review Amber