Bardet Biedl syndrome
Gene: IFT74EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Second individual with bi-allelic variants reported.Created: 14 Mar 2020, 3:54 a.m. | Last Modified: 14 Mar 2020, 3:54 a.m.
Panel Version: 0.21
Single family plus functional data (zebrafish model consistent with ciliopathy).
Sources: Expert listCreated: 3 Jan 2020, 9:53 a.m. | Last Modified: 14 Mar 2020, 3:56 a.m.
Panel Version: 0.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 20, MIM# 617119
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Bardet-Biedl syndrome 20, MIM# 617119
- OMIM
- 608040
- Clinvar variants
- Variants in IFT74
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Severe early-onset obesity
- Bardet Biedl syndrome
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IFT74 were set to 27486776
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift74 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift74 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift74 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift74 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFT74 was added gene: IFT74 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119 Review for gene: IFT74 was set to AMBER