IFT74 gene related symptoms and diseases

All the information presented here about the IFT74 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IFT74 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Obesity Very Common - Between 80% and 100% cases
Rod-cone dystrophy Very Common - Between 80% and 100% cases
Hypogonadism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IFT74 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Polydactyly
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Rare diseases associated to IFT74 gene

Here you will find a list of rare diseases related to the IFT74. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BARDET-BIEDL SYNDROME 20; BBS20


Description

BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Most common symptoms of BARDET-BIEDL SYNDROME 20; BBS20

  • Intellectual disability
  • Microcephaly
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


More info about BARDET-BIEDL SYNDROME 20; BBS20

SOURCES: OMIM


Potential gene panels for IFT74 gene

Bardet-Biedl Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290

More info about this panel

Monogenic Obesity Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Bardet-Biedl Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290

More info about this panel

Monogenic Obesity Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Bardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bardet-Biedl Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 IFT74 BBS10 BBS12 C8orf37

More info about this panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel

IFT74 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IFT74 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel


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