Genomic newborn screening: ICoNS (Version 0.7)

Description

UNDER CONSTRUCTION. DO NOT USE.

Panel Activity

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 8 Entitiess
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of MIM# 201450 Tags
Green Green List (high evidence)	CBS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types MIM#236200 Tags
Red Red List (low evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes VLCAD deficiency MIM#201475 Tags
Red Red List (low evidence)	AK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Tags
No list No list	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Epilepsy, early-onset, 4, vitamin B6-dependent Tags
No list No list	F9	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Phenotypes Hemophilia B Tags
No list No list	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Phenotypes Creberal creatine deficiency syndrome 2 (MIM 612736) Tags
No list No list	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Transcobalamin II deficiency, MIM#275350 Tags

8 Entities