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Intellectual disability syndromic and non-syndromic

Gene: AXIN1

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental delay is a feature.
Created: 27 Oct 2023, 11:56 p.m. | Last Modified: 27 Oct 2023, 11:56 p.m.
Panel Version: 0.5597

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

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

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
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

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: axin1 has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: axin1 has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: axin1 has been classified as Red List (Low Evidence).

7 Sep 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: AXIN1 was added gene: AXIN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AXIN1 were set to PMID: 37582359 Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related Review for gene: AXIN1 was set to GREEN