Oculocutaneous Albinism Type 7

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

Genes related to Oculocutaneous Albinism Type 7

LRMDA

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Oculocutaneous Albinism Type 7

Nystagmus
Photophobia
Albinism

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Oculocutaneous Albinism Type 7 Is also known as oca7.

Researches and researchers

Doctors, researchs, and experts related to Oculocutaneous Albinism Type 7 extracted from public data.

Oculocutaneous Albinism Type 7 Experts map

Current Researchs and researchers

MADRID — Dr Matías MORÍN RODRÍGUEZ
Investigator of research project
- Institution/s:
  — Hospital Universitario Ramón y Cajal
- Research area/topic::
  Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition

SEVILLA — Dr María del Carmen PEÑA CHILET
Investigator of research project
- Institution/s:
  — Fundación Progreso y Salud
- Research area/topic::
  Mathematical models of disease mechanisms to reformulate drugs for rare diseases

Oculocutaneous Albinism Type 7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ocular Albinism and Hermansky Pudlak Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, AP3B1, MC1R, OCA2, BLOC1S6 Specificity 6 % Genes 100 %
Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). TYR, TYRP1, SLC45A2, SLC24A5, LRMDA, OCA2 Specificity 17 % Genes 100 %
OCA7 C10orf11. By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark). LRMDA Specificity 100 % Genes 100 %
Albinism sequencing panel. By Genetic Services Laboratory University of Chicago (United States). TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A Specificity 5 % Genes 100 %
Albinism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A Specificity 5 % Genes 100 %
Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene). By CGC Genetics (Portugal). LRMDA Specificity 100 % Genes 100 %
Albinism (NGS panel for 12 genes). By CGC Genetics (Portugal). TYR, TYRP1, SLC45A2, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A Specificity 9 % Genes 100 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TYR, TYRP1, SLC45A2, HPS6, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A Specificity 8 % Genes 100 %