Tags

• Case#: Eldest sister/Female/Onset at 3yo
• GenotypingMethod: genetic screening by next‐generation sequencing (NGS) was performed on a panel of genes involved in retinal dystrophy and macular degeneration
• Disease: stargardt syndrome
• inferred_gene_source:Gene_Name
• ClinGen ABCA4 Annotations
• CaseHPOFreeText:severe macular atrophy (Heidelberg Spectralis, Heidelberg Engineering; Figure 3). Multifocal ERG responses were severely reduced at all rings in both eyes
• Gene: ABCA4
• DiseaseAssertion: SLC26A2
• inferred_gene_hgnc:34
• FamilyInfo:Family pedigree showing consanguinity of the proband's parents. The osteochondrodysplasia genotype, derived from a homozygous variant in the SLC26A2 gene and compound heterozygous variants in the ABCA4 gene, is responsible for the retinal phenotype.
• inferred_gene_source:RefSeq
• Disease: epiphyseal dysplasia
• Gene: SLC26A2
• CasePresentingHPOs: n/a
• Varient: ABCA4 (RefSeq: NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu))
• PMID: 33724725

Annotators

• Vibhor

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