FAT4 Chromosome 4

FAT atypical cadherin 4
175 variants 175 Health Risk

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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
RS200138872 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS200221425 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Anophthalmia-microphthalmia syndrome, Irido-corneo-trabecular dysgenesis
RS200227715 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS200344386 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS200529379 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200565115 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS200702071 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Inborn genetic diseases
RS200729108 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS200952904 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS200995117 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Inborn genetic diseases
RS201009019 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder
RS201160284 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS201859188 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT4-related disorder, Inborn genetic diseases
RS201887525 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS201892240 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202148971 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202188213 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS202235021 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Inborn genetic diseases
RS2126027812 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367877267 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS368138514 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS368872163 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS368992969 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS369024765 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS369144497 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369432764 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS370499753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS371821589 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS372013515 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS372689449 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS373393333 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS373586010 Health Risk Conflicting classifications of pathogenicity —
RS374104309 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases, FAT4-related disorder
RS374899663 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT4-related disorder, Inborn genetic diseases
RS376422522 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Inborn genetic diseases
RS376791829 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS377156485 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases, FAT4-related disorder
RS531337325 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS534302520 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535333070 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS541157165 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS551446826 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases, FAT4-related disorder
RS568003396 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS570502199 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Inborn genetic diseases
RS572010193 Health Risk Conflicting classifications of pathogenicity —
RS574924064 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS578140620 Health Risk Conflicting classifications of pathogenicity —
RS745697037 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS746085629 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746761404 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Inborn genetic diseases
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