Hereditary neuropathy or pain disorder

Gene: NOTCH2NL

This gene is now known as NOTCH2NLA (ENSG00000264343).

The review by Christopher Record (UCL) below relates to a different gene, NOTCH2NLC (ENSG00000286219), which cannot be added as it does not exist in the version of Ensembl currently loaded in PanelApp (v90). This issue has been recorded and an update of the reference data in PanelApp is scheduled for later this year, at which point the NOTCH2NLC gene will be added to all appropriate panels.

Created: 17 Mar 2025, 2:43 p.m. | Last Modified: 17 Mar 2025, 2:43 p.m.

Panel Version: 6.164

Red List (low evidence)

NOTCH2NL was added to this panel in error. To date, NOTCH2NL variants have not been associated with any conditions in OMIM, G2P or Mondo.

Created: 20 Nov 2024, 9:53 a.m. | Last Modified: 20 Nov 2024, 9:53 a.m.

Panel Version: 6.138

Green List (high evidence)

[NB NOTCH2NL selected from gene drop down as NOTCH2NLC not available]
NOTCH2NLC GGC repeat expansion
Reported pure CMT in 26 cases from Japan (36948577), and 7cases from Taiwan (34675106). Chinese NOTC2NLC related NIID cohort also showed peripheral neuropathy in significant proportion (37749855). Anecdotally found in family with CMT of European ancestry (unpublished).
Phenotypes included CMT2, CMTi and HMN
Sources: Literature

Created: 14 Nov 2024, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 36948577
• 37749855
• 34675106

Mode of pathogenicity
Other