SLC45A2 gene related symptoms and diseases

All the information presented here about the SLC45A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC45A2 gene

Symptoms // Phenotype % Cases
Nystagmus Uncommon - Between 30% and 50% cases
Iris hypopigmentation Uncommon - Between 30% and 50% cases
Macular hypoplasia Uncommon - Between 30% and 50% cases
Squamous cell carcinoma of the skin Uncommon - Between 30% and 50% cases
Hypopigmentation of the fundus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC45A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the optic nerve
  • White hair
  • Generalized hypopigmentation
  • Blue irides
  • Hypoplasia of the fovea
  • Hypopigmentation of hair
  • Strabismus
  • Basal cell carcinoma

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC45A2 gene

Here you will find a list of rare diseases related to the SLC45A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OCULOCUTANEOUS ALBINISM TYPE 4


Alternate names

OCULOCUTANEOUS ALBINISM TYPE 4 Is also known as oca4, oculocutaneous albinism, type iv

Description

Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

Most common symptoms of OCULOCUTANEOUS ALBINISM TYPE 4

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia


More info about OCULOCUTANEOUS ALBINISM TYPE 4

SOURCES: ORPHANET OMIM MESH

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5


Alternate names

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 Is also known as skin/hair/eye pigmentation 5, black/nonblack hair, skin/hair/eye pigmentation 5, dark/light eyes, skin/hair/eye pigmentation 5, dark/fair skin

Most common symptoms of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5

  • Abnormality of the eye


More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5

SOURCES: OMIM


Potential gene panels for SLC45A2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

SLC45A2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC45A2 gene.

More info about this panel

SLC45A2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC45A2 gene.

More info about this panel

SLC45A2 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the SLC45A2 gene.

More info about this panel

Ocular Albinism and Hermansky Pudlak Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the SLC45A2 gene.

More info about this panel

Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA OCA2

More info about this panel

Oculocutaneous albinism type 4 Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet

This panel specifically test the SLC45A2 gene.

More info about this panel

Albinism sequencing panel Panel

United States.

By Genetic Services Laboratory University of Chicago Albinism sequencing panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Albinism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Albinism Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

SLC45A2 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the SLC45A2 gene.

More info about this panel

Ocular albinism type IV (OCA4, sequence analysis of SLC45A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC45A2 gene.

More info about this panel

Albinism (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Albinism (NGS panel for 12 genes) that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A

More info about this panel

Oculocutaneous Albinism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Oculocutaneous Albinism Sequencing Panel with CNV Detection that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF

More info about this panel

Oculocutaneous Albinism Type 4 (OCAIV) via SLC45A2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SLC45A2 gene.

More info about this panel

Hypopigmentation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Ocular / Oculocutaneous Albinism Panel

Germany.

By MGZ Medical Genetics Center Ocular / Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA SLC38A8 FRMD7 OCA2

More info about this panel

Albinism oculocutaneous type IV Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC45A2 gene.

More info about this panel

Albinism Panel

Germany.

By Centogene AG - the Rare Disease Company Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A

More info about this panel

Albinism Panel Panel

Germany.

By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R OCA2

More info about this panel

Albinism Panel Panel

Germany.

By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R OCA2

More info about this panel

Single gene testing SLC45A2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC45A2 gene.

More info about this panel

Oculocutaneous Albinism Panel

Estonia.

By Asper Biogene Asper Biogene LLC Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel

United States.

By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Albinism Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2

More info about this panel

Albinism: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Albinism: Sequencing Panel that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA OCA2

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Albinism: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Albinism: Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA OCA2

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Albinism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Albinism NGS Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A

More info about this panel

SLC45A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC45A2 gene.

More info about this panel

Albinism Panel Panel

Finland.

By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Hermansky-Pudlak Syndrome Panel Panel

Finland.

By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2

More info about this panel

ALBINISM: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ALBINISM: NGS PANEL that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF

More info about this panel

OCULOCUTANEOUS ALBINISM Panel

Spain.

By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 OCA2

More info about this panel

OCULOCUTANEOUS ALBINISM (OCA) Panel

Spain.

By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM (OCA) that also includes the following genes: TYR TYRP1 SLC45A2 OCA2

More info about this panel

Albinisim panel Panel

Canada.

By LifeLabs Genetics Albinisim panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2

More info about this panel

Oculocutaneous Albinism Type 4 , Sequencing SLC45A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC45A2 gene.

More info about this panel

Albinism , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Albinism , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A

More info about this panel

Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA MC1R OCA2

More info about this panel

Oculocutaneous Albinism Type 4: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SLC45A2 gene.

More info about this panel


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