Human Molecular Genetics and Metabolic Disorders (Pakistan Institute for Engineering and Applied Science (PIEAS))
General information
Human Molecular Genetics and Metabolic Disorders
Pakistan Institute for Engineering and Applied Science (PIEAS)
Faisalabad
Pakistan - 38000
http://www.nibge.org/Division.aspx?page=Human%20Molecular%20Genetics%20and%20Metabolic%20Disorders&div=HBT
Organization ID: 506245
Pakistan Institute for Engineering and Applied Science (PIEAS)
Faisalabad
Pakistan - 38000
http://www.nibge.org/Division.aspx?page=Human%20Molecular%20Genetics%20and%20Metabolic%20Disorders&div=HBT
Organization ID: 506245
Personnel
- Uzma Abdullah, Contact
Phone: +923317967764
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cockayne syndrome type 1 | 1 | Aug 5, 2020 |
| Generalized weakness of limb muscles | 1 | May 22, 2018 |
| Generalized-onset seizure | 1 | May 22, 2018 |
| Global developmental delay | 1 | May 22, 2018 |
| Grebe syndrome | 1 | Dec 17, 2020 |
| Intellectual disability | 1 | Oct 2, 2020 |
| Intellectual disability, moderate | 1 | May 22, 2018 |
| Lower limb spasticity | 1 | Oct 2, 2020 |
| Macrogyria | 1 | May 22, 2018 |
| Microcephaly 3, primary, autosomal recessive | 1 | Jul 6, 2017 |
| Microcephaly 5, primary, autosomal recessive | 2 | May 20, 2018 |
| Microcephaly 6, primary, autosomal recessive | 2 | Mar 26, 2018 |
| Nephronophthisis 3 | 1 | Jul 10, 2017 |
| Seizure | 1 | Oct 2, 2020 |
| Strabismus | 1 | May 22, 2018 |
| Visual impairment | 1 | May 22, 2018 |