gene2phenotype

For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome

Gene: NT5C3A Disease: NT5C3A-related HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY

Allelic requirement: biallelic_autosomal
Mutation consequence summary: absent gene product

Variant consequence: loss_of_function_variant

Panel	Confidence category
DD	definitive

Gene: NT5C3A

Location

Synonyms: NT5C3
OMIM MIM: 606224
Ensembl stable ID: ENSG00000122643
Variant information: ClinVar DECIPHER
Protein information: DECIPHER

Look up NT5C3A in PanelApp

Disease: HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY

OMIM: 266120

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Phenotypes

Look up phenotypes associated with NT5C3A in DECIPHER