Skeletal dysplasia

Gene: AXIN1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 3:54 p.m. | Last Modified: 4 May 2024, 4:34 p.m.

Panel Version: 5.3

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

• 37582359

Green List (high evidence)

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: Literature

Created: 7 Sep 2023, 7:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic disease, (MONDO:0002254), AXIN1-related; skeletal dysplasia

Publications

• 37582359