Genomics England

Paediatric pseudo-obstruction syndrome (Version: )

Relevant disorders: R438

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

23 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EDN3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	EDNRB	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	ERBB3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L1CAM	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	monogenic-polygenic
Green	LIG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMOD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYH11	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYLK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHOX2B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	STR
Green	POLG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PROK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	PROKR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	PROKR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RET	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SGO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOX10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZEB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Paediatric pseudo-obstruction syndrome (Version: 1.0)

Paediatric pseudo-obstruction syndrome (Version: )