IFT27 gene related symptoms and diseases

All the information presented here about the IFT27 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IFT27 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Obesity Very Common - Between 80% and 100% cases
Hypogonadism Very Common - Between 80% and 100% cases
Generalized hirsutism Uncommon - Between 30% and 50% cases
Multicystic kidney dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IFT27 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal electroretinogram
  • Hypoplasia of the ovary
  • Medial flaring of the eyebrow
  • Renal insufficiency
  • Nephrotic syndrome
  • Rod-cone dystrophy
  • Polydactyly
  • Stage 5 chronic kidney disease

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IFT27 gene

Here you will find a list of rare diseases related to the IFT27. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BARDET-BIEDL SYNDROME

Alternate names

BARDET-BIEDL SYNDROME Is also known as bbs

Description

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

Most common symptoms of BARDET-BIEDL SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


More info about BARDET-BIEDL SYNDROME

SOURCES: ORPHANET

BARDET-BIEDL SYNDROME 19; BBS19

Description

BBS19 is an autosomal recessive ciliopathy characterized by obesity, intellectual disability, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014).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 19; BBS19

  • Intellectual disability
  • Renal insufficiency
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


More info about BARDET-BIEDL SYNDROME 19; BBS19

SOURCES: OMIM


Potential gene panels for IFT27 gene

Bardet-Biedl Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E ADIPOR1 BBS10 BBS12

More info about this panel
United States.

Bardet-Biedl syndrome (NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Bardet-Biedl syndrome (NGS panel for 22 genes) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel
Portugal.

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel
Portugal.

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
United States.

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel
United States.

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
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

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
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Bardet Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel
Germany.

Bardet Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel
Germany.

Bardet-Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel
Germany.

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Bardet-Biedl syndrome panel Panel

United States.

By Molecular Vision Laboratory Bardet-Biedl syndrome panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E BBS10 BBS12 C8orf37

More info about this panel
United States.

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

IFT27 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IFT27 gene.

More info about this panel
United States.

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
United States.

BARDET-BIEDL SYNDROME (NGS) Panel

Spain.

By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME (NGS) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel
Spain.

Bardet-Biedl Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Bardet-Biedl Syndrome: gene sequencing panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel
Canada.

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