TULP1:Ensemblv115

TUB like protein 1
OMIM: 602280, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TULP1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Retinitis pigmentosa 14 M(MIM#600132)
Green TULP1 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leber congenital amaurosis 15, 613843 Retinitis pigmentosa 14, 600132
Green TULP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Retinitis pigmentosa 14, 600132 (3)
Green TULP1 in Congenital nystagmus Level 2: Ophthalmological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review NHS Genomic Medicine Service Genomics England PanelApp Expert list Expert Review Green Phenotypes Leber congenital amaurosis 15, MIM# 613843
Green TULP1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Leber congenital amaurosis 15, MIM#613843 Retinitis pigmentosa 14, MIM#600132
Green TULP1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Leber congenital amaurosis 15, MIM#613843 Retinitis pigmentosa 14, MIM#600132