NM_012330.4(KAT6B):c.699A>G (p.Glu233=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502012.1
Allele description [Variation Report for NM_012330.4(KAT6B):c.699A>G (p.Glu233=)]
NM_012330.4(KAT6B):c.699A>G (p.Glu233=)
Condition(s)
- Name:
- Genitopatellar syndrome (GTPTS)
- Synonyms:
- ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
- Identifiers:
- MONDO: MONDO:0011640; MedGen: C1853566; Orphanet: 85201; OMIM: 606170
- Name:
- Blepharophimosis - intellectual disability syndrome, SBBYS type (SBBYSS)
- Synonyms:
- OHDO SYNDROME, SBBYS VARIANT; Young Simpson syndrome; Mental retardation unusual facies hypothyroidism; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011365; MedGen: C1863557; Orphanet: 3047; OMIM: 603736
Assertion and evidence details
Last Updated: Feb 28, 2024