Recurrent episodic apnoea

Gene: GLRB

Green List (high evidence)

The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.

Panel Version: 0.91

Green List (high evidence)

Comment on classification of gene: This gene should be rated GREEN as this gene has been associated with apnoea from at least 7 unrelated cases.

This gene has been associated with hyperexplexia in both OMIM (MIM #614619) and G2P. GLRB-related hyperexplexia was reported to be caused by autosomal recessive (AR) inheritance in OMIM. But, it was reported with both AR and autosomal dominant (AD) in G2P. However, the confidence of AD association is "limited" while the confidence for AR is "definitive".

In PMID:24030948, 12 cases were reported with GLRB-related hyperexplexia, of which 11 are caused by AR and 1 is caused by AD inheritance. The single AD case and 7 out of 11 AR cases had apnoea.

Literature review in PMID:28173650 reported that 20 put of 24 (83%) of patients with hyperexplexia had neonatal apnoea as one of the symptoms.

Created: 3 Jan 2023, 3:07 p.m. | Last Modified: 3 Jan 2023, 3:07 p.m.

Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 2, OMIM:614619

Publications

• 24030948
• 28173650

Gene added on recommendation of Dr Emma Matthews.

Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.

Panel Version: 0.2