Achromatopsia 4; Achm4

Description

Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002).For a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}.

Clinical Features

Phenotypes and symptoms related to Achromatopsia 4; Achm4

  • Nystagmus
  • Visual impairment
  • Photophobia
  • Achromatopsia
  • Monochromacy

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Achromatopsia 4; Achm4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Achromatopsia - GNAT2 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

GNAT2
Specificity
100 %
Genes
100 %
GNAT2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GNAT2
Specificity
100 %
Genes
100 %
GNAT2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GNAT2
Specificity
100 %
Genes
100 %
Achromatopsia 4 (sequence analysis of GNAT2 gene).

By CGC Genetics (Portugal).

GNAT2
Specificity
100 %
Genes
100 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics (Portugal).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, INPP5E, CNGA3, CNGB3, CRB1, CRX, IQCB1, CEP290, SNRNP200, LCA5, AIPL1, DTHD1, GNAT2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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