Macrocephaly_Megalencephaly
Gene: AXIN1

AXIN1 (axin 1)
EnsemblGeneIds (GRCh38): ENSG00000103126
EnsemblGeneIds (GRCh37): ENSG00000103126
OMIM: 603816, Gene2Phenotype
AXIN1 is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

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, 2:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

PMID: 37582359

Created: 7 Sep 2023, 2:30 a.m.

Panel version: 0.128

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

OMIM

603816

Clinvar variants

Variants in AXIN1

Penetrance

None

Publications

PMID: 37582359

Panels with this gene

History Filter Activity

27 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AXIN1 were changed from Syndromic disease, (MONDO:0002254), AXIN1-related to Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

7 Sep 2023, Gel status: 3