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Additional findings_Paediatric

Gene: RAI1

Green List (high evidence)

RAI1 (retinoic acid induced 1)
EnsemblGeneIds (GRCh38): ENSG00000108557
EnsemblGeneIds (GRCh37): ENSG00000108557
OMIM: 607642, Gene2Phenotype
RAI1 is in 8 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Potocki-Lupski syndrome
  • Smith-Magenis syndrome
OMIM
607642
Clinvar variants
Variants in RAI1
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Potocki-Lupski syndrome for gene: RAI1

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAI1 was added gene: RAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome