NM_018082.6(POLR3B):c.2570+1G>A AND Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Feb 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000760972.9
Allele description [Variation Report for NM_018082.6(POLR3B):c.2570+1G>A]
NM_018082.6(POLR3B):c.2570+1G>A
Condition(s)
- Name:
- Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
- Synonyms:
- Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism; LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM; Cerebellar hypoplasia with endosteal sclerosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013722; MedGen: C3280644; Orphanet: 85186; Orphanet: 88637; OMIM: 614381
Assertion and evidence details
Last Updated: Mar 10, 2024