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Mendeliome

Gene: IFT74

Green List (high evidence)

IFT74 (intraflagellar transport 74)
EnsemblGeneIds (GRCh38): ENSG00000096872
EnsemblGeneIds (GRCh37): ENSG00000096872
OMIM: 608040, Gene2Phenotype
IFT74 is in 12 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified as LIMITED by ClinGen Motile Ciliopathy GCEP on 19/02/2025 - https://search.clinicalgenome.org/CCID:008711

According to CliNGen’s review, no reported individuals with PCD in isolation were identified which resulted in the Limited classification.
Created: 10 Mar 2025, 12:33 a.m. | Last Modified: 10 Mar 2025, 12:33 a.m.
Panel Version: 1.2363

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia, MONDO:0016575

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Created: 15 Jun 2021, 4:13 a.m. | Last Modified: 15 Jun 2021, 4:13 a.m.
Panel Version: 0.281

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Limited evidence for association with spermatogenic failure: two unrelated individuals with same homozygous missense variant.
Created: 24 Oct 2021, 1:55 a.m. | Last Modified: 24 Oct 2021, 1:55 a.m.
Panel Version: 0.9437
PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Created: 15 Jun 2021, 7:08 a.m. | Last Modified: 15 Jun 2021, 7:08 a.m.
Panel Version: 0.8009
Second individual with bi-allelic variants and BBS phenotype reported.
Created: 14 Mar 2020, 3:59 a.m. | Last Modified: 14 Mar 2020, 3:59 a.m.
Panel Version: 0.1703
Single family and functional data.
Sources: Expert list
Created: 3 Jan 2020, 9:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585

Publications

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585

24 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585

24 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT74 were set to 27486776; 32144365; 33531668

15 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome

15 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT74 were set to 27486776; 32144365

14 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT74 were set to 27486776

14 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift74 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift74 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift74 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 1

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 Mendeliome_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