Skeletal dysplasia
Gene: AXIN1
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 13 Oct 2023, 5:54 p.m. | Last Modified: 13 Oct 2023, 5:54 p.m.
Panel Version: 4.23
As reviewed by Zornitza Stark, five individuals from three families were reported with hip dysplasia.
Biallelic variants in AXIN1 has not yet been associated with this complex syndromic phenotype either in OMIM or in Gene2Phenotype.Created: 13 Oct 2023, 5:52 p.m. | Last Modified: 13 Oct 2023, 5:52 p.m.
Panel Version: 4.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681
Publications
PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: LiteratureCreated: 7 Sep 2023, 7:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia
Publications
Gene: axin1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, MONDO:0018681
Tag Q4_23_promote_green tag was added to gene: AXIN1.
gene: AXIN1 was added gene: AXIN1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AXIN1 were set to 37582359 Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia Review for gene: AXIN1 was set to GREEN