Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
PMID:31836589
Gene: ABCA4
HGNC ID: 34
5 Matching Annotations
- Last 7 days
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
Tags
Annotators
URL
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease
PMID:32043016
Gene: ABCA4
HGNC ID: 34
Tags
Annotators
URL
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
PMID:31721179
Gene: ABCA4
HGNC ID: 34
Tags
Annotators
URL
-
- Feb 2026
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A10M c.4139C>T:p(P1380L
Case#: 10 years old
DiseaseAssertion:See Table 1
FamilyInfo: Not Mentioned
CasePresentingHPOs: Not specified
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/a
CasePreviousTesting: See Table 2
Variant: NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
ClinVar: 7904 https://www.ncbi.nlm.nih.gov/clinvar/variation/7904/
CAID: CA129033
gnomAD: 0.00030430 https://gnomad.broadinstitute.org/variant/chr1-94031110-G-A?dataset=gnomad_r4
SupplementalData: Table 2
-
A01Fa c.4793C>A:p(A1598D)
Case#: Age is not specified (Age of onset: 15 years old, with the time from onset: 8 years)
DiseaseAssertion: Presented with macular flecks and alterations in the retinal pigment epithelium (RPE) subretinal deposits.
FamilyInfo: Consanguinity within the family
CasePresentingHPOs: HP:0000608, HP:0008035 (Macular Degeneration, Retinis pigmentosa inversa)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: Visual Acuity: 20/20
CasePreviousTesting: See Table 2
Variant: NM_000350.3(ABCA4):C.4793C>A (p.Ala1598Asp)
ClinVar: 99321 https://www.ncbi.nlm.nih.gov/clinvar/variation/99321/
CAID: CA227239
gnomAD: 0.00002631 https://gnomad.broadinstitute.org/variant/1-94021695-G-T?dataset=gnomad_r3
SupplementalData: Table 2, Results Section
-