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Gene: GOSR2

Green List (high evidence)

Congenital muscular dystrophy with or without seizures
Characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy.
At least three families reported with a muscular dystrophy presentation as well as seizures.

Progressive myoclonic epilepsy-6
Neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.
Founder variant has been reported: c.430G>T, p.Gly144Trp.

From Clingen curation (16/04/2024) - Some individuals not homozygous for the founder variant (i.e. either two non-founder variants or compound heterozygotes with a single founder variant) also present with muscular dystrophy and/or changes on muscle biopsy. Two phenotypes are therefore grouped by ClinGen (as progressive myoclonus epilepsy) as there is no reported difference in disease mechanism. Also large phenotypic overlap between individuals who are homozygous for the founder variant.

Created: 31 Oct 2024, 12:48 a.m. | Last Modified: 31 Oct 2024, 12:48 a.m.

Panel Version: 1.521

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 6 MIM#614018; Muscular dystrophy, congenital, with or without seizures MIM#620166

Publications

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