Severe microcephalyGene: NAPB
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 GMS
Created: 20 Mar 2022, 9:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Early infantile epileptic encephalopathy
gene: NAPB was added gene: NAPB was added to Severe microcephaly. Sources: Expert Review Amber,NHS GMS Q2_22_rating, Q2_22_NHS_review tags were added to gene: NAPB. 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