Microcephaly
Gene: WARSEnsemblGeneIds (GRCh38): ENSG00000140105
EnsemblGeneIds (GRCh37): ENSG00000140105
OMIM: 191050, Gene2Phenotype
WARS is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317
Anna Ritchie (Victorian Clinical Genetics Services)
Seven affected individuals from four families with biallelic variants, showing varying
severities of developmental delay, intellectual disability and microcephaly. Hearing impairment and, as well as brain anomalies, skeletal system, movement/gait, and behaviour were variable features.
Sources: LiteratureCreated: 4 Aug 2022, 6:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), WARS-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317
- OMIM
- 191050
- Clinvar variants
- Variants in WARS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WARS were changed from Neurodevelopmental disorder (MONDO:0700092), WARS-related to Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: wars has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: wars has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Anna Ritchie (Victorian Clinical Genetics Services)gene: WARS was added gene: WARS was added to Microcephaly. Sources: Literature Mode of inheritance for gene: WARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WARS were set to PMID: 35815345; 35790048 Phenotypes for gene: WARS were set to Neurodevelopmental disorder (MONDO:0700092), WARS-related Review for gene: WARS was set to GREEN