Description:
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
MARKER CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Other
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,del(6)(q14q16.3)mat.arr 6p21.2p21.1(40306347-41270869)x3,6p12.3(48121234-48901610)x3,6q14.1q16.3(79577407-104717216)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Decreased visual acuity; nystagmus; foveal hypoplasia; coarse facies; upslanting palpebral fissures; elongated philtrum; developmental delay; profound hypotonia; 46,XY,rec(6),del q, inv ins (6) (p21.3;q15q13)mat |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH, Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? Am J Med Genet42:700-5 1992 |
| PubMed ID: 1632442 |
| dbSNP |
dbSNP ID: 21424 |
| Gene Ontology |
GO:0005215 transporter activity |
|
GO:0005302 L-tyrosine transporter activity |
|
GO:0005395 eye pigment precursor transporter activity |
|
GO:0005737 cytoplasm |
|
GO:0006726 eye pigment biosynthesis |
|
GO:0006810 transport |
|
GO:0015105 arsenite transporter activity |
|
GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:4948 |
| NCBI GTR |
203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| OMIM |
203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| Omim Description |
ALBINISM II |
| |
ALBINISM, OCULOCUTANEOUS, TYPE II |
| |
ALBINOIDISMPINK-EYED DILUTION, INCLUDED |
| |
OCULOCUTANEOUS ALBINISM, TYPE II; OCA2 |
| |
OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE |
| |
P, INCLUDED |
| |
PED, INCLUDED |
|
|