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Prepair 500+

Gene: TULP1

Green List (high evidence)

TULP1 (tubby like protein 1)
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 14, 600132 (3)
OMIM
602280
Clinvar variants
Variants in TULP1
Penetrance
None
Panels with this gene

History Filter Activity

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: TULP1 was added gene: TULP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)