Paediatric pseudo-obstruction syndrome (Version 1.5)

The latest signed off version for the GMS is v1.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R438 Paediatric pseudo-obstruction syndrome' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R438 Paediatric pseudo-obstruction syndrome'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Panel Activity

4 reviewers

Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

55 Entities

55 reviewed, 23 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 55 Entitiess
Green Green List (high evidence)	ACTA2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Multisystemic smooth muscle dysfunction syndrome, OMIM:613834 Tags
Green Green List (high evidence)	ACTG2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 Visceral myopathy 1, OMIM:155310 Tags
Green Green List (high evidence)	EDN3	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Waardenburg syndrome, type 4B, OMIM:613265 {Hirschsprung disease, susceptibility to, 4}, OMIM:613712 Tags monogenic-polygenic
Green Green List (high evidence)	EDNRB	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Waardenburg syndrome, type 4A, OMIM:277580 {Hirschsprung disease, susceptibility to, 2}, OMIM:600155 ?ABCD syndrome, OMIM:600501 Tags monogenic-polygenic
Green Green List (high evidence)	ERBB3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180 Tags
Green Green List (high evidence)	FLNA	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Congenital short bowel syndrome, OMIM:300048 Intestinal pseudoobstruction, neuronal, OMIM:300048 Tags
Green Green List (high evidence)	L1CAM	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000 Tags monogenic-polygenic
Green Green List (high evidence)	LIG3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 Tags
Green Green List (high evidence)	LMOD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, OMIM:619362 Tags
Green Green List (high evidence)	MPV17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810 Tags
Green Green List (high evidence)	MYH11	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351 Visceral myopathy 2, OMIM:619350 Tags
Green Green List (high evidence)	MYLK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210 Tags
Green Green List (high evidence)	PHOX2B	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880 central hypoventilation syndrome, congenital, MONDO:0800031 Neuroblastoma with Hirschsprung disease, OMIM:613013 neuroblastoma, susceptibility to, 2, MONDO:0700041 Tags STR
Green Green List (high evidence)	POLG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 Tags
Green Green List (high evidence)	PROK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Hirschsprung disease, MONDO:0018309 Tags gene-checked
Green Green List (high evidence)	PROKR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Hirschsprung disease, MONDO:0018309 Tags gene-checked
Green Green List (high evidence)	PROKR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Hirschsprung disease, MONDO:0018309 Tags
Green Green List (high evidence)	RET	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623 {Hirschsprung disease, protection against}, 142623 Tags
Green Green List (high evidence)	SGO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chronic atrial and intestinal dysrhythmia, OMIM:616201 Tags
Green Green List (high evidence)	SOX10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes PCWH syndrome, OMIM:609136 Waardenburg syndrome, type 4C, OMIM:613266 Tags
Green Green List (high evidence)	TTC7A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150 Tags
Green Green List (high evidence)	TYMP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 Tags
Green Green List (high evidence)	ZEB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Mowat-Wilson syndrome, OMIM:235730 Tags
Amber Amber List (moderate evidence)	ECE1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870 Tags
Amber Amber List (moderate evidence)	GFRA1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Susceptibility to Hirschsprung disease, MONDO:0100179 Tags watchlist
Amber Amber List (moderate evidence)	MYL9	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365 Tags Q2_23_promote_green
Amber Amber List (moderate evidence)	RAD21	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mungan syndrome, OMIM:611376 Tags
Red Red List (low evidence)	BCR	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes Paediatric intestinal pseudo-obstruction Tags
Red Red List (low evidence)	BCS1L	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000 Tags
Red Red List (low evidence)	C17orf107	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809 Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 Tags
Red Red List (low evidence)	CHRNE	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809 Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 Tags
Red Red List (low evidence)	COX10	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Red Red List (low evidence)	COX15	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Red Red List (low evidence)	DDX3X	3 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Red Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Tags
Red Red List (low evidence)	DGUOK	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 Tags
Red Red List (low evidence)	DLX1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Abnormal bowel motility in mice Tags
Red Red List (low evidence)	DLX2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Abnormal bowel motility in mice Tags
Red Red List (low evidence)	ERBB2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465 Tags
Red Red List (low evidence)	FOCAD	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Chronic intestinal pseudoobstruction, MONDO:0017574 Tags
Red Red List (low evidence)	GDNF	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes {Hirschsprung disease, susceptibility to, 3}, OMIM:613711 Tags
Red Red List (low evidence)	KIF26A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes GDNF-Ret in ENS development Tags
Red Red List (low evidence)	NDUFS1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Red Red List (low evidence)	NKX2-1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Megacolon, oesophageal atresia Tags
Red Red List (low evidence)	NRTN	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes susceptibility to Hirschsprung disease Tags
Red Red List (low evidence)	PDCL3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986 Tags
Red Red List (low evidence)	RRM2B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075 Tags
Red Red List (low evidence)	SCN10A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Colon sensory neurons activation Tags
Red Red List (low evidence)	SDHA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Tags
Red Red List (low evidence)	SEMA3F	2 reviews 1 red	Unknown	Sources Expert list Phenotypes megacolon, MONDO:0001273 Tags gene-checked
Red Red List (low evidence)	SUCLA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Red Red List (low evidence)	SUCLG1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400 Tags
Red Red List (low evidence)	SURF1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110 Tags
Red Red List (low evidence)	TK2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Tags
Red Red List (low evidence)	TPM3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes Megacolon Tags
Red Red List (low evidence)	TWNK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 Perrault syndrome 5, OMIM:616138 Tags

Major version comments

2023-03-22 16:36 Catherine Snow (Genomics England) promoted panel to 1.0
The content of this panel has been produced in agreement with the NHS Genomic Medicine Service. The panel was promoted to the first major version (1.0) following this.

Paediatric pseudo-obstruction syndrome (Version 1.5)

4 reviewers

55 Entities

55 reviewed, 23 green

3 reviews

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