MD-1001 STGD1 44 c.6089G>A p.(Arg2030Gln) 47 c.6410G>A p.(Cys2137Tyr) - - - - - - - This study
This variant is found in compound heterozygosity with c.6089G>A p.(Arg2030Gln) in family MD-1001 in this study. No phenotype information provided. Not eligible for PP4 due to age of onset not being provided.
Peripheral venous blood was obtained from 24 clinically diagnosed Korean STGD patients, followed by extraction of genomic DNAs. Using exome sequencing we investigated gene mutations for the adenosine triphosphate-binding cassette, subfamily A, member 4 (ABCA4) elongation of very-long-chain fatty acids 4 (ELOVL4), and prominin 1 (PROM1), and confirmed gene mutations by the direct sequencing of polymerase chain reaction products.
Paper is said to contain this variant based on LOVD entry, but this paper is not publicly available. Requested from library. Annotation on stable PDF. No individual phenotype provided
Supplementary File pnas.1909378117.sd01.xlsx (5.4MB, xlsx)
This variant was listed in a supplemental table under "autosomal recessive variants" but there are no patient IDs to be able to know if the person who had this variant had another variant. There was also no phenotype information provided
Supplement 4Click here for additional data file.(480K, pdf)Supplement 5Click here for additional data file.(460K, pdf)
This variant was found in 92 of the 670 alleles in this cohort (Supplement 4). Supplement 5 has the individuals listed with their genotypes, but only mentions variants that were classified as VUS/LP/P, so it is unknown which individuals specifically had this variant or which other variants they also had.
Supplementary data. bjophthalmol-2018-312064supp004.pdf
This variant is found on pg 21 in proband 13047. Compound heterozygous for c.5882G>A p.Gly1961Glu. Said to have Stargardt based on the following criteria: "(1) patients (at least 6 years old) with at least two ABCA4 variants or one ABCA4 variant associated with a typical STGD1 phenotype and (2) presence of a well-defined atrophic lesion with/without flecks at the most recent visit of at least 300 µm in diameter (the total area of all lesions <12 mm2)." No additional details provided
Supplementary MaterialsSupplementary information41598_2017_11211_MOESM1_ESM.xlsx (63K)
This paper is flagged in Mastermind as containing this variant. The rs12720449 ID is mentioned in the supplemental info under the controls tab, but the specific variant is not listed
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease A New Epidemiologic Picture
PMID: 26986123 Gene: von Willebrand factor HGNCID: 12726 Note: reported for group analysis with no associated probands/patient
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses
This article is not publicly available. I was able to obtain institutional access to the full text, but am annotating the PubMed abstract so the details are available to everyone.
PMID:30903511
Gene: IDUA (and others)
Disease: MPS1 (and others)
Inheritance: Autosomal recessive