Rare multisystem ciliopathy disorders
Gene: TULP1
TULP1 (tubby like protein 1)
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 9 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Leber congenital amaurosis and retinitis pigmentosa are not included on this panelCreated: 23 Jan 2017, 12:10 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Leber congenital amaurosis 15, 613843
- Retinitis pigmentosa 14, 600132
- Ciliopathies
- OMIM
- 602280
- Clinvar variants
- Variants in TULP1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)TULP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Emory Genetics Laboratory
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TULP1 was created by ellenmcdonagh
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TULP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen