NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs) AND Allan-Herndon-Dudley syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001794858.1
Allele description [Variation Report for NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)]
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)
Condition(s)
- Name:
- Allan-Herndon-Dudley syndrome (AHDS)
- Synonyms:
- T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010354; MedGen: C0795889; Orphanet: 59; OMIM: 300523
Assertion and evidence details
Last Updated: Dec 24, 2023