FREM2 Chromosome 13
FRAS1 related extracellular matrix 2
Upload your DNA to see your personal genotypes for variants in FREM2.
What This Gene Does
This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
Associated Conditions (10)
Isolated cryptophthalmia
Fraser syndrome 2
Inborn genetic diseases
FREM2-related disorder
Microcephaly
Epidermolysis bullosa simplex with nail dystrophy
Fraser syndrome 1
Congenital diaphragmatic hernia
Childhood-onset schizophrenia
8 conditions
Key Variants
RS114229197
Conflicting classifications of pathogenicity
Isolated cryptophthalmia, Fraser syndrome 2, Inborn genetic diseases
Health Risk
RS114333791
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
Health Risk
RS114341997
Conflicting classifications of pathogenicity
Fraser syndrome 2, Fraser syndrome 2
Health Risk
RS114346379
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
Health Risk
RS114400765
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Isolated cryptophthalmia
Health Risk
RS114595447
Conflicting classifications of pathogenicity
Fraser syndrome 2, Inborn genetic diseases, Isolated cryptophthalmia
Health Risk
RS114688149
Conflicting classifications of pathogenicity
FREM2-related disorder, FREM2-related disorder
Health Risk
RS114837786
Conflicting classifications of pathogenicity
Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia
Health Risk
RS115149211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115446826
Conflicting classifications of pathogenicity
Fraser syndrome 2, FREM2-related disorder, Fraser syndrome 2
Health Risk
RS115830086
Conflicting classifications of pathogenicity
Fraser syndrome 2, Fraser syndrome 2
Health Risk
RS116030904
Conflicting classifications of pathogenicity
Fraser syndrome 2, Fraser syndrome 2
Health Risk
All Variants (206)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753746099 | Health Risk | Pathogenic/Likely pathogenic | Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia |
| RS759257554 | Health Risk | Pathogenic/Likely pathogenic | Fraser syndrome 1, Isolated cryptophthalmia, Fraser syndrome 2 |
| RS765324128 | Health Risk | Pathogenic/Likely pathogenic | Isolated cryptophthalmia, Fraser syndrome 2, Isolated cryptophthalmia |
| RS767978562 | Health Risk | Pathogenic/Likely pathogenic | 8 conditions, Fraser syndrome 1, 8 conditions |
| RS769926034 | Health Risk | Pathogenic/Likely pathogenic | Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2 |
| RS886043213 | Health Risk | Pathogenic/Likely pathogenic | Fraser syndrome 2, Isolated cryptophthalmia, Fraser syndrome 2 |