Paediatric or syndromic cardiomyopathy - previous panel (Version 0.14)

This Panel is marked as Internal

Description

It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that the clinical indication clinical indication 'R135 Paediatric or syndromic cardiomyopathy' should be included on the Cardiomyopathies - including childhood onset panel (panel code 469) rather than having two seperate panels. Genes and reviews from this panel were therefore transferred over to the Cardiomyopathies - including childhood onset panel, and this panel was therefore made internal.

Panel Activity

4 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS clinical service

92 Entities

4 reviewed, 0 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 92 Entitiess
Red Red List (low evidence)	ABCC9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	ACADVL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	ACTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	ACTC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	ACTN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy Tags
Red Red List (low evidence)	ANKRD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	BAG3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	BRAF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	CBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	COA5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	CPT2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	CRYAB	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	CSRP3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	CTF1	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	DES	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	DMD	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Tags
Red Red List (low evidence)	DNAJC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	DOLK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	DSC2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	DSG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	DSP	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	DTNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	EMD	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Tags
Red Red List (low evidence)	EPG5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	EYA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	FHL1	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Tags
Red Red List (low evidence)	FKTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	GAA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	GLA	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Tags
Red Red List (low evidence)	GLB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	GUSB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	HRAS	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	IDH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	ILK	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	JUP	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	KRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	LAMA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	LAMP2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Tags
Red Red List (low evidence)	LDB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	LMNA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	MAP2K1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MAP2K2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MIB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MMACHC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	MUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags new-gene-name
Red Red List (low evidence)	MYBPC3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MYH6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MYH7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	MYL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MYL3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	MYPN	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	NEBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	NEXN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	NRAS	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	PCCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	PCCB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	PDLIM3	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	PKP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	PLN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	PNPLA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	PPP1R13L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	PRKAG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	PTPN11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	RAF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	RBM20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	RIT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	RYR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	SCN5A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SCO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SDHA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SGCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SHOC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	SLC22A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SLC25A20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SLC25A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	SOS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	STK4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	TAZ	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH Tags
Red Red List (low evidence)	TCAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	TGFB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	TMEM43	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	TMPO	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	TNNC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	TNNI3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Tags
Red Red List (low evidence)	TNNT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	TPM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags
Red Red List (low evidence)	TSFM	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	TTN	0 reviews	Not set	Sources South West GLH Tags
Red Red List (low evidence)	TTR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Phenotypes Amyloidosis, hereditary, transthyretin-related 105210 Tags treatable
Red Red List (low evidence)	VCL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Tags

Paediatric or syndromic cardiomyopathy - previous panel (Version 0.14)

4 reviewers

92 Entities

4 reviewed, 0 green

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