ANKLE2 Chromosome 12
Ankyrin repeat and LEM domain containing 2
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What This Gene Does
This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"Ankyrin repeat domain containing|LEM domain containing"
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000176915
Associated Conditions (9)
Microcephaly 16
primary
autosomal recessive
Inborn genetic diseases
Microcephaly
ANKLE2-related disorder
Vanishing white matter disease
Intellectual disability
Hypotonia
Key Variants
RS1555235999
Conflicting classifications of pathogenicity
Microcephaly 16, primary, autosomal recessive
Health Risk
RS185977448
Conflicting classifications of pathogenicity
Health Risk
RS200115455
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200398705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200911469
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201785518
Conflicting classifications of pathogenicity
Microcephaly 16, primary, autosomal recessive
Health Risk
RS865818494
Conflicting classifications of pathogenicity
Microcephaly 16, primary, autosomal recessive
Health Risk
RS1185537869
Likely pathogenic
Microcephaly 16, primary, autosomal recessive
Health Risk
RS753680111
Likely pathogenic
Microcephaly 16, primary, autosomal recessive
Health Risk
RS778886674
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS863225465
Likely pathogenic
Microcephaly 16, primary, autosomal recessive
Health Risk
RS1380982250
Pathogenic
Microcephaly 16, primary, autosomal recessive
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555235999 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 16, primary, autosomal recessive |
| RS185977448 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200115455 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200398705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200911469 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201785518 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 16, primary, autosomal recessive |
| RS865818494 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly 16, primary, autosomal recessive |
| RS1185537869 | Health Risk | Likely pathogenic | Microcephaly 16, primary, autosomal recessive |
| RS753680111 | Health Risk | Likely pathogenic | Microcephaly 16, primary, autosomal recessive |
| RS778886674 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS863225465 | Health Risk | Likely pathogenic | Microcephaly 16, primary, autosomal recessive |
| RS1380982250 | Health Risk | Pathogenic | Microcephaly 16, primary, autosomal recessive |
| RS753596204 | Health Risk | Pathogenic | Microcephaly 16, primary, autosomal recessive |