Genetic Epilepsy

Gene: RNU4ATAC

Green List (high evidence)

Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.

Seizures reported with the Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 phenotype.

Created: 20 Aug 2021, 3:39 a.m. | Last Modified: 15 May 2024, 4:04 a.m.

Panel Version: 0.2686

Comment when marking as ready: Note gene is not protein coding.

Created: 14 Apr 2020, 6:04 a.m. | Last Modified: 14 Apr 2020, 6:04 a.m.

Panel Version: 0.2278

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710; Lowry-Wood syndrome, MIM# 226960

Publications

• 29265708
• 12605445

Green List (high evidence)

PMID: 23794361; total of 40 patients with MOPD1
PMID: 26522830; 4 unrelated families with Roifman Syndrome
PMID: 30455926; total of 13 patients with Roifman Syndrome

Created: 14 Apr 2020, 5:20 a.m. | Last Modified: 14 Apr 2020, 5:20 a.m.

Panel Version: 0.2275

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)

Publications

• PMID: 23794361
• 26522830
• 30455926