Regression
Gene: ADPRHL2
Comment when marking as ready: New HGNC approved name is ADPRS.Created: 12 Sep 2020, 1:43 a.m. | Last Modified: 12 Sep 2020, 1:43 a.m.
Panel Version: 0.157
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.
Sources: Expert listCreated: 6 Jul 2020, 4:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM# 618170
Publications
Gene: adprhl2 has been classified as Green List (High Evidence).
Tag new gene name tag was added to gene: ADPRHL2.
Gene: adprhl2 has been classified as Green List (High Evidence).
Gene: adprhl2 has been classified as Green List (High Evidence).
gene: ADPRHL2 was added gene: ADPRHL2 was added to Regression. Sources: Expert list Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30100084; 30401461 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM# 618170 Review for gene: ADPRHL2 was set to GREEN