Genetic Epilepsy

Gene: NAGLU

Green List (high evidence)

Seizures only in the bi-allelic disorder, MPS.

Created: 18 Oct 2021, 5:50 a.m. | Last Modified: 18 Oct 2021, 5:50 a.m.

Panel Version: 0.1342

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; Seizures

Green List (high evidence)

The association between bi-allelic variants and Sanfilippo B is well established. The disorder is characterized by the accumulation of heparan sulfate, resulting in progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe. Seizures have been reported in affected individuals.

Two families reported with mono-allelic variants and CMT.
Sources: Expert list, Literature

Created: 18 Oct 2021, 1:12 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures

Publications

• 34396902
• 25818867
• 8650226

I don't know

Two families reported segregating variants and family members in the large kindred carrying a missense showed a significant decrease of the enzymatic function (average 45%).

Created: 23 Mar 2020, 6:49 a.m. | Last Modified: 23 Mar 2020, 6:49 a.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491

Publications

• 25818867