FAT4

FAT atypical cadherin 4

3 disorders 2 untyped 1 causative 4q28.1 gene with protein product

HGNC:23109 Monarch NCBI Gene 79633 ENSG00000196159 UniProt Q6V0I7 OMIM 612411

Aliases: CDHF14, FAT-J, CDHR11.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Van Maldergem Syndrome	causative germline loss of function	mechanism: Loss of DCHS1-FAT4 Cadherin Pair Function subtype: VMS2
Hennekam lymphangiectasia-lymphedema syndrome 2	untyped Causal biallelic loss-of-function variant	mechanism: FAT4 loss of function
Periventricular Nodular Heterotopia	untyped Causative	mechanism: Radial Glial Apical Attachment and Vesicle-Trafficking Failure

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
FAT4-related neurodevelopmental disorder MONDO:0100603	AR	Definitive 2025-02-20	no dismech entry

Mechanism modules · computed from kb/

apical_neuroependyma_integrity_failure via Periventricular Nodular Heterotopia named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.