Early onset or syndromic epilepsy
Gene: NAPB
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 3 unrelated families (4 affected individuals) with distinct homozygous variants in this gene, universally presenting seizures, profound ID and microcephaly. Pathogenicity is supported by a complimentary knockout mouse model demonstrating recurrent post-natal epileptic seizures which were lethal in some mice.Created: 6 Apr 2022, 11:25 a.m. | Last Modified: 6 Apr 2022, 11:25 a.m.
Panel Version: 2.506
Three cases reported with early infantile epileptic encepahlopathy and with homozygous LOF variants in this gene. Null mice also develop severe recurrent epileptic seizures from day 11, followed by ataxia. Sufficient evidence to be considered as green gene on the epilepsy and ID panels, autosomal recessive inheritance only.
Sources: NHS GMSCreated: 20 Mar 2022, 9:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early infantile epileptic encephalopathy
Publications
Phenotypes for gene: NAPB were changed from Early infantile epileptic encephalopathy to Developmental and epileptic encephalopathy 107, OMIM:620033
Tag Q2_22_rating was removed from gene: NAPB. Tag Q2_22_NHS_review was removed from gene: NAPB.
Source Expert Review Green was added to NAPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: napb has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: NAPB. Tag Q2_22_NHS_review tag was added to gene: NAPB.
gene: NAPB was added gene: NAPB was added to Genetic epilepsy syndromes. Sources: NHS GMS Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPB were set to 28097321; 33189936; 26235277; 21040848 Phenotypes for gene: NAPB were set to Early infantile epileptic encephalopathy Penetrance for gene: NAPB were set to unknown Review for gene: NAPB was set to GREEN