Ptosis, Hereditary Congenital 1; Ptos1
Description
Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.See PTOS2 (OMIM ) for description of an X-linked form of congenital bilateral isolated ptosis.
Genes related to Ptosis, Hereditary Congenital 1; Ptos1
- ZFHX4
- COL25A1
Clinical Features
Phenotypes and symptoms related to Ptosis, Hereditary Congenital 1; Ptos1
- Ptosis
- Congenital ptosis
Incidence and onset information
— Not enough data available about incidence and published cases.
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Ptosis, Hereditary Congenital 1; Ptos1 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
Ptosis, congenital.
By Centogene AG - the Rare Disease Company in Germany.
ZFHX4
Specificity
100 %
Genes
50 % |
|
ZFHX4.
By Fulgent Genetics Fulgent Genetics in United States.
ZFHX4
Specificity
100 %
Genes
50 % |
|
Fibrosis of extraocular muscles, congenital (sequence analysis of COL25A1 gene).
By CGC Genetics in Portugal.
COL25A1
Specificity
100 %
Genes
50 % |
|
Fibrosis of extraocular muscles, congenital (sequence analysis of COL25A1 gene).
By CGC Genetics in Portugal.
COL25A1
Specificity
100 %
Genes
50 % |
|
COL25A1.
By Fulgent Genetics Fulgent Genetics in United States.
COL25A1
Specificity
100 %
Genes
50 % |
|
Congenital Extraocular Muscles Fibrosis Type 5 , Sequencing COL25A1 Gene.
By Reference Laboratory Genetics in Spain.
COL25A1
Specificity
100 %
Genes
50 % |
|
Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes.
By Reference Laboratory Genetics in Spain.
TUBB3, PHOX2A, KIF21A, COL25A1
Specificity
25 %
Genes
50 % |
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