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  1. Last 7 days
  2. dev.biologists.org dev.biologists.org
    ArhGEF18 regulates RhoA-Rock2 signaling to maintain neuro-epithelial apico-basal polarity and proliferation
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    dev.biologists.org/content/140/13/2787
  3. www.sciencedirect.com www.sciencedirect.com
    Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
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    2. ClingenBaseline 23 Oct 2026
      GC17880

      Case#: GC17880, Presumed F, Age of Report: 37 y.o. Ethnicity: N/A.

      CasePresentingHPOs: HP:0030786 (Photopsia), HP:0000662 (Nyctalopia), HP:0001123 (Visual field defect/field defects), HP:0000585 (Band keratopathy/Left band keratopathy), HP:0007703 (Abnormality of retinal pigmentation)

      CaseHPOFreeText: The proband was diagnosed with simplex RP and was the second of three siblings born to first-cousin parents with no family history of eye disease, underwent WES revealing 21,404 coding variants.

      Other reported symptoms include: Irregular pigmented lesions in periphery, foveal/parafoveal cysts.

      Fields to confrontation age 36 years less than 30 degrees.

      Proband also was diagnosed with left band keratopathy, Wolf-Parkinson White syndrome, 4 miscarriages.

      CaseNotHPOs: HP:0005268 (Miscarriage), HP:0001716 (Wolff-Parkinson-White syndrome)

      CaseNotHPOFreeText: N/A.

      CasePreviousTesting: Sanger sequencing of CRB1.

      CaseMethod1: N/A.

      CaseMethod2: N/A.

      CaseGenotypingMethod: WES.

      Variant: NM_001130955.1:c.1617+5G>A.

      ClinVar ID: 417758.

      gnomAD: Frequency: 0.000003099. Link: https://gnomad.broadinstitute.org/variant/19-7456408-G-A?dataset=gnomad_r4.

      VariantEvidence: N/A.

      CaseAddInfo: CA16616865.

      CasePMIDs: N/A.

      inferred_gene_hgnc:17090 inferred_gene_source:CAID Retina GCEP
    3. ClingenBaseline 23 Oct 2026
      GC3626

      Case#: GC3626, M, Age of Report: 51 y.o., Ethnicity: N/A.

      CasePresentingHPOs: HP:0030786 (Photopsia), HP:0007663 (Reduced visual acuity), HP:0000662 (Nyctalopia), HP:0000543 (Optic disc pallor/pale discs), HP:0011505 (Cystoid macular edema), HP:0031527 (Retinal edema), HP:0011531 (Vitritis/Vitritis cells), HP:0007703 (Abnormality of retinal pigmentation)

      CaseHPOFreeText: The proband has been diagnosed with retinitis pigmentosa, following a previous diagnosis of Stargardt's macular dystrophy almost 1 decade earlier. First onset of night vision loss was reportedly in his teens.

      Other reported symptoms include: Irregular pigmented lesions in periphery, pale discs, cystoid macular edema, peripheral telangiectasia with some retinal edema and vitreous cells, possible para-arteriolar sparing.

      Goldmann visual fields age 29: ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained.

      Also diagnosed with L Fuch’s heterochromic cyclitis.

      CaseNotHPOs: N/A.

      CaseNotHPOFreeText: N/A.

      CasePreviousTesting: Sanger sequencing of CRB1.

      CaseMethod1: N/A.

      CaseMethod2: N/A.

      CaseGenotypingMethod: WGS.

      Variant: Variant 1: NM_001367823.1:c.3196G>T. Variant 2: NM_001367823.1:c.3302_3325del.

      ClinVar ID: Variant 1: 417757. Variant 2: 417756.

      gnomAD: Variant 1: Frequency: 6.524e-7 (Allele Frequency). Link: https://gnomad.broadinstitute.org/variant/19-7467400-G-T?dataset=gnomad_r4. Variant 2: N/A.

      VariantEvidence: N/A.

      CaseAddInfo: Variant 1: CA16616864. Variant 2: CA16616863.

      CasePMIDs: N/A.

      inferred_gene_hgnc:17090 inferred_gene_source:CAID Retina GCEP
    4. ClingenBaseline 23 Oct 2026
      GC18203

      Case#: GC18203, F, Age of Diagnosis: 37 y.o., Ethnicity: N/A.

      CasePresentingHPOs: HP:0007663 (Reduced visual acuity), HP:0000662 (Nyctalopia), HP:0000543 (Optic disc pallor/pale discs), HP:0011505 (Cystoid macular edema), HP:0007703 (Abnormality of retinal pigmentation)

      CaseHPOFreeText: The proband was diagnosed with simplex retinitis pigmentosa. The proband is the second of two siblings born to unrelated parents with no family history of eye disease.

      At 20 yrs of age, the proband developed the following symptoms: reduced acuity, mild nyctalopia and blind spots.

      Other reported symptoms include irregular peripheral pigment, pale discs, cystoid macular edema, vitreous opacities, attenuated sheathed vessels, peripheral retinal exudate.

      Octopus visual fields age 36 central 20-30 degrees retained on R , 30-50 degrees on L, age 37 24-2 central scotomas, fields now constricted to 15 degrees each eye.

      CaseNotHPOs: N/A.

      CaseNotHPOFreeText: N/A.

      CasePreviousTesting: Sanger sequencing of CRB1.

      CaseMethod1: N/A.

      CaseMethod2: N/A.

      CaseGenotypingMethod: WGS.

      Variant: Variant 1: NM_001367823.1:c.808A>G. Variant 2: NM_001367823.1:c.2560C>T.

      ClinVar ID: Variant 1: N/A. Variant 2: 417755.

      gnomAD: Variant 1: Frequency: 0. Link:https://gnomad.broadinstitute.org/variant/19-7382877-A-G?dataset=gnomad_r4. Variant 2: Frequency: 0.000002920. Link: https://gnomad.broadinstitute.org/variant/19-7462259-C-T?dataset=gnomad_r4.

      VariantEvidence: N/A.

      CaseAddInfo: Variant 1: CA403164517. Variant 2: CA16616862.

      CasePMIDs: N/A

      inferred_gene_hgnc:17090 inferred_gene_source:CAID Retina GCEP
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    sciencedirect.com/science/article/pii/S0002929716305407