Congenital Disorders of Glycosylation

Gene: PIGN

Green List (high evidence)

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterised by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. More than 10 unrelated families reported. Typically missense variants or compound het missense with truncating variants.

Note 6 individuals reported with LOF variants (including intragenic deletion with founder effect in La Reunion Island) and a more severe Fryns phenotype.

Created: 19 Dec 2020, 7:57 a.m. | Last Modified: 19 Dec 2020, 7:57 a.m.

Panel Version: 0.276

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563

Publications

• 21493957
• 24253414
• 26364997
• 26394714
• 33193741
• 32585529
• 29330547