ALX1 Chromosome 12
ALX homeobox 1
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What This Gene Does
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
12q21.31
Ensembl
ENSG00000180318
Associated Conditions (2)
ALX1-related disorder
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Key Variants
RS145944049
Conflicting classifications of pathogenicity
ALX1-related disorder, ALX1-related disorder
Health Risk
RS781138367
Likely pathogenic
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Health Risk
RS1593055101
Pathogenic
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Health Risk
RS587776684
Pathogenic
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145944049 | Health Risk | Conflicting classifications of pathogenicity | ALX1-related disorder, ALX1-related disorder |
| RS781138367 | Health Risk | Likely pathogenic | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome |
| RS1593055101 | Health Risk | Pathogenic | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome |
| RS587776684 | Health Risk | Pathogenic | Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome, Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome |