Alport syndrome_VCGS (Version 0.4)

This Panel is marked as Deleted

Description

This panel has been generated from the list of diagnostic genes for Alport syndrome from Victorian Clinical Genetics Services (VCGS), Australia, provided by Zornitza Stark (December 2019).

This panel is being hosted in Genomics England PanelApp to allow systematic panel comparison between Genomics England PanelApp and PanelApp Australia.

For the original VCGS panel, visit the PanelApp Australia site: https://panelapp.agha.umccr.org/panels/

Panel Activity

6 Entities

0 reviewed, 5 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 6 Entitiess
Green List (high evidence)	COL4A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 Tags
Green List (high evidence)	COL4A3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COL4A4	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COL4A5	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	MYH9	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Red List (low evidence)	CD151	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags

Alport syndrome_VCGS (Version 0.4)

6 Entities

0 reviewed, 5 green

COL4A1

0 reviews

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Phenotypes

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COL4A3

0 reviews

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COL4A4

0 reviews

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COL4A5

0 reviews

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MYH9

0 reviews

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CD151

0 reviews

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Phenotypes

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