NM_020922.5(WNK3):c.4000dup (p.Arg1334fs) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003311582.1
Allele description [Variation Report for NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)]
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
Condition(s)
- Name:
- Autism (AUTS)
- Synonyms:
- Autistic disorder; Autistic disorder of childhood onset
- Identifiers:
- MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
- Name:
- Congenital laryngomalacia
- Synonyms:
- Laryngomalacia
- Identifiers:
- MONDO: MONDO:0007878; MedGen: C0264303; OMIM: 150280; Human Phenotype Ontology: HP:0001601
- Name:
- Retrognathia
- Synonyms:
- retrognathism
- Identifiers:
- MedGen: C0035353; Human Phenotype Ontology: HP:0000278
- Name:
- Abnormal facial shape
- Synonyms:
- Dysmorphic facies; Dysmorphic facial features
- Identifiers:
- MedGen: C0424503; Human Phenotype Ontology: HP:0001999
- Name:
- Delayed speech and language development
- Identifiers:
- MedGen: C0454644; Human Phenotype Ontology: HP:0000750
- Name:
- Subglottic stenosis
- Identifiers:
- MedGen: C0238441; Human Phenotype Ontology: HP:0001607
- Name:
- Intellectual disability, moderate
- Synonyms:
- Moderae intellectual disability
- Identifiers:
- MedGen: C0026351; Human Phenotype Ontology: HP:0002342
- Name:
- Sleep apnea
- Synonyms:
- Sleep apnea syndrome
- Identifiers:
- MONDO: MONDO:0005296; MedGen: C0037315; Human Phenotype Ontology: HP:0010535
- Name:
- Motor stereotypies
- Synonyms:
- Stereotypic behavior; Abnormal repetitive mannerisms
- Identifiers:
- MedGen: C0038271; Human Phenotype Ontology: HP:0000733
Assertion and evidence details
Last Updated: Oct 8, 2024