gene2phenotype

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

Gene: GNAI1 Disease: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities

Allelic requirement: monoallelic_autosomal
Cross cutting modifier: typically de novo
Mutation consequence summary: altered gene product structure

Variant consequence: frameshift_variant; inframe_deletion; missense_variant

Panel	Confidence category
DD	moderate

Gene: GNAI1

Location

Synonyms
OMIM MIM: 139310
Ensembl stable ID: ENSG00000127955
Variant information: ClinVar DECIPHER
Protein information: DECIPHER

Look up GNAI1 in PanelApp

Disease: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities

OMIM: 619854

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Publications

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development. (J Hum Genet 67: 209-214, 2022)

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. (Genet Med 2021)

Phenotypes

Look up phenotypes associated with GNAI1 in DECIPHER