Prepair 1000+

Gene: ADPRHL2

Green List (high evidence)

HGNC approved symbol/name: ADPRS: ADP-ribosylserine hydrolase

14 families reported, onset is in the first years of life following normal early development. Patients have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

PMID:35664652 - 30mth old following respiratory tract infection presented with unsteady gait, acute cerebellar ataxia, abnormals electroencephalogram results and slightly widened cerebella sulci. Patient died 4 months after onset.and was chet for 2 ADPRS variants

Created: 12 Jul 2024, 6:49 a.m. | Last Modified: 12 Jul 2024, 6:49 a.m.

Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)

Publications

• 30100084
• 30401461
• 35664652

I don't know

Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

New HGNC approved name is ADPRS.

To be upgraded to GREEN in next version of panel.

Created: 22 Mar 2024, 1:53 a.m. | Last Modified: 22 Mar 2024, 5:38 a.m.

Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170