AMMECR1 Chromosome X
AMMECR nuclear protein 1
Upload your DNA to see your personal genotypes for variants in AMMECR1.
What This Gene Does
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000101935
Associated Conditions (7)
Midface hypoplasia
hearing impairment
elliptocytosis
and nephrocalcinosis
AMMECR1-related disorder
Skraban-Deardorff syndrome
Short stature
Key Variants
RS1057519338
Conflicting classifications of pathogenicity
Midface hypoplasia, hearing impairment, elliptocytosis
Health Risk
RS1453532929
Conflicting classifications of pathogenicity
Health Risk
RS199797010
Conflicting classifications of pathogenicity
AMMECR1-related disorder, AMMECR1-related disorder
Health Risk
RS775481785
Conflicting classifications of pathogenicity
Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
Health Risk
RS1602891688
Likely pathogenic
Health Risk
RS2148162290
Likely pathogenic
Health Risk
RS2522493719
Likely pathogenic
Midface hypoplasia, hearing impairment, elliptocytosis
Health Risk
RS765498367
Likely pathogenic
Midface hypoplasia, hearing impairment, elliptocytosis
Health Risk
RS1057519337
Pathogenic
Midface hypoplasia, hearing impairment, elliptocytosis
Health Risk
RS1569405174
Pathogenic
Short stature, Midface hypoplasia, hearing impairment
Health Risk
RS750022919
Pathogenic
Midface hypoplasia, hearing impairment, elliptocytosis
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519338 | Health Risk | Conflicting classifications of pathogenicity | Midface hypoplasia, hearing impairment, elliptocytosis |
| RS1453532929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199797010 | Health Risk | Conflicting classifications of pathogenicity | AMMECR1-related disorder, AMMECR1-related disorder |
| RS775481785 | Health Risk | Conflicting classifications of pathogenicity | Skraban-Deardorff syndrome, Skraban-Deardorff syndrome |
| RS1602891688 | Health Risk | Likely pathogenic | — |
| RS2148162290 | Health Risk | Likely pathogenic | — |
| RS2522493719 | Health Risk | Likely pathogenic | Midface hypoplasia, hearing impairment, elliptocytosis |
| RS765498367 | Health Risk | Likely pathogenic | Midface hypoplasia, hearing impairment, elliptocytosis |
| RS1057519337 | Health Risk | Pathogenic | Midface hypoplasia, hearing impairment, elliptocytosis |
| RS1569405174 | Health Risk | Pathogenic | Short stature, Midface hypoplasia, hearing impairment |
| RS750022919 | Health Risk | Pathogenic | Midface hypoplasia, hearing impairment, elliptocytosis |