Clefting
Gene: NEB
Comment on list classification: Although there are three unrelated cases reported with cleft palate in literature and a case reported with bifid uvula in the DECIPHER project, clefting has not been consistently reported as a phenotype in patients with biallelic NEB variants and is not fully penetrant in at least one family with clefting.Created: 14 Aug 2023, 2:57 p.m. | Last Modified: 14 Aug 2023, 2:58 p.m.
Panel Version: 4.88
PMID:12207937 - A 9 month-old boy from one of five families affected by nemaline myopathy and reported with NEB variants had cleft palate. This patient was homozygous for 1-bp deletion in exon 184, which was also found in the mother, whereas no DNA was available from father.
PMID:21798101 - Two siblings were reported with severe arthrogryposis multiplex congenital and were identified with compound heterozygous variants in NEB gene (c.1152 + 1G > T & c.11318_11319del), of which one patient had cleft palate.
PMID:33376055 - A male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation had cleft palate and was identified with homozygous splice-site NEB variant (c.19,102-1G>T).
DECIPHER databse - Of 10 patients with biallelic (compound heterozygous or homozygous) sequence variants in NEB gene reported in DECIPHER database, one patient with compound heterozygous NEB variants had bifid uvula.
Cleft palate has been associated as one of the clinical presentations of Arthrogryposis multiplex congenita 6 (MIM #619334) in OMIM.
Sources: LiteratureCreated: 14 Aug 2023, 2:53 p.m. | Last Modified: 14 Aug 2023, 3:26 p.m.
Panel Version: 4.90
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 6, OMIM:619334
Publications
Publications for gene: NEB were set to 12207937; 21798101; 33376055
Gene: neb has been classified as Amber List (Moderate Evidence).
gene: NEB was added gene: NEB was added to Clefting. Sources: Literature Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 12207937; 21798101; 33376055 Phenotypes for gene: NEB were set to Arthrogryposis multiplex congenita 6, OMIM:619334 Review for gene: NEB was set to AMBER