FAT4 Chromosome 4
FAT atypical cadherin 4
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What This Gene Does
The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
4q28.1
Ensembl
ENSG00000196159
Associated Conditions (11)
FAT4-related disorder
Inborn genetic diseases
Hennekam lymphangiectasia-lymphedema syndrome 2
Van Maldergem syndrome 2
Colorectal cancer
Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Congenital chromosomal disease
Gastric cancer
Intellectual disability
Van Maldergem syndrome
Key Variants
RS112101185
Conflicting classifications of pathogenicity
FAT4-related disorder, Inborn genetic diseases, FAT4-related disorder
Health Risk
RS112454576
Conflicting classifications of pathogenicity
Health Risk
RS116568645
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 2
Health Risk
RS1262944393
Conflicting classifications of pathogenicity
Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
Health Risk
RS1357034003
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
Health Risk
RS1357511665
Conflicting classifications of pathogenicity
Health Risk
RS137954725
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138019311
Conflicting classifications of pathogenicity
FAT4-related disorder, FAT4-related disorder
Health Risk
RS138173652
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
Health Risk
RS138275098
Conflicting classifications of pathogenicity
FAT4-related disorder, Colorectal cancer, FAT4-related disorder
Health Risk
RS138655269
Conflicting classifications of pathogenicity
Van Maldergem syndrome 2, FAT4-related disorder, Van Maldergem syndrome 2
Health Risk
RS138655912
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (175)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2530451837 | Health Risk | Pathogenic | — |
| RS2530719238 | Health Risk | Pathogenic | — |
| RS2530889102 | Health Risk | Pathogenic | — |
| RS2530892102 | Health Risk | Pathogenic | — |
| RS2530896937 | Health Risk | Pathogenic | — |
| RS2530897266 | Health Risk | Pathogenic | — |
| RS2530901028 | Health Risk | Pathogenic | — |
| RS2530907604 | Health Risk | Pathogenic | — |
| RS2531000854 | Health Risk | Pathogenic | — |
| RS2531022178 | Health Risk | Pathogenic | — |
| RS370088878 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS373298045 | Health Risk | Pathogenic | — |
| RS398122953 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122954 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122955 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2 |
| RS398122956 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122957 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS587777724 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2 |
| RS587777725 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2 |
| RS587777726 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2 |
| RS751776479 | Health Risk | Pathogenic | — |
| RS760733250 | Health Risk | Pathogenic | — |
| RS963302668 | Health Risk | Pathogenic | Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS2530083642 | Health Risk | Pathogenic/Likely pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2 |
| RS567305960 | Health Risk | Pathogenic/Likely pathogenic | Van Maldergem syndrome, Van Maldergem syndrome |