Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R276 Lysosomal storage disorder' 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 'R276 Lysosomal storage disorder'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/529/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (17/09/2019).

This panel will continue to be curated. 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 for the GMS panels.

3 reviewers

  • Emma Ashton (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Carol Hardy (West Midlands Regional Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

51 Entities

51 reviewed, 50 green

List Entity Reviews Mode of inheritance Details
51 Entitiess
Green Green List (high evidence)
AGA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Aspartylglucosaminuria 208400
Tags
Green Green List (high evidence)
ARSA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Metachromatic leukodystrophy 250100
Tags
Green Green List (high evidence)
ARSB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Tags
Green Green List (high evidence)
ASAH1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Farber lipogranulomatosis 228000
Tags
Green Green List (high evidence)
CLN3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
Tags
Green Green List (high evidence)
CLN5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 256731
Tags
Green Green List (high evidence)
CLN6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
Tags
Green Green List (high evidence)
CLN8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Tags
Green Green List (high evidence)
CTNS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, ocular nonnephropathic 219750
Tags
Green Green List (high evidence)
CTSA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Galactosialidosis 256540
Tags
Green Green List (high evidence)
CTSD
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10 610127
Tags
Green Green List (high evidence)
CTSK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Pycnodysostosis 265800
Tags
Green Green List (high evidence)
DNAJC5
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Tags
Green Green List (high evidence)
FUCA1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Fucosidosis 230000
Tags
Green Green List (high evidence)
GAA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Glycogen storage disease II 232300
Tags
Green Green List (high evidence)
GALC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Krabbe disease 245200
Tags
Green Green List (high evidence)
GALNS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis IVA 253000
Tags
Green Green List (high evidence)
GBA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Gaucher disease, type I 230800
  • Gaucher disease, type III 231000
  • Gaucher disease, type IIIC 231005
  • Gaucher disease, perinatal lethal 608013
  • Gaucher disease, type II 230900
Tags
Green Green List (high evidence)
GLA
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Fabry disease 301500
Tags
Green Green List (high evidence)
GLB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type IVB (Morquio) 253010
  • GM1-gangliosidosis, type III 230650
  • GM1-gangliosidosis, type I 230500
  • GM1-gangliosidosis, type II 230600
Tags
Green Green List (high evidence)
GM2A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • GM2-gangliosidosis, AB variant 272750
Tags
Green Green List (high evidence)
GNE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Sialuria 269921 (AD)
  • Nonaka myopathy 605820
Tags
Green Green List (high evidence)
GNPTAB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucolipidosis II alpha/beta 252500
Tags
Green Green List (high evidence)
GNPTG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucolipidosis III gamma 252605
Tags
Green Green List (high evidence)
GNS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type IIID 252940
Tags
Green Green List (high evidence)
GUSB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis VII 253220
Tags
Green Green List (high evidence)
HEXA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Tay-Sachs disease 272800
  • GM2-gangliosidosis, several forms 272800
Tags
Green Green List (high evidence)
HEXB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms 268800
Tags
Green Green List (high evidence)
HGSNAT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Tags
Green Green List (high evidence)
HYAL1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • ?Mucopolysaccharidosis type IX 601492
Tags
Green Green List (high evidence)
IDS
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis II 309900
Tags
Green Green List (high evidence)
IDUA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis Ih 607014
  • Mucopolysaccharidosis Is 607016
  • Mucopolysaccharidosis Ih/s 607015
Tags
Green Green List (high evidence)
LAMP2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Danon disease 300257
Tags
Green Green List (high evidence)
LIPA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cholesteryl ester storage disease 278000
  • Wolman disease 278000
Tags
Green Green List (high evidence)
MAN2B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mannosidosis, alpha-, types I and II 248500
Tags
Green Green List (high evidence)
MANBA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mannosidosis, beta 248510
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucolipidosis IV 252650
Tags
Green Green List (high evidence)
MFSD8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 610951
Tags
Green Green List (high evidence)
NAGA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Schindler disease, type I 609241
  • Schindler disease, type III 609241
Tags
Green Green List (high evidence)
NAGLU
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Tags
Green Green List (high evidence)
NEU1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Sialidosis, type II 256550
  • Sialidosis, type I 256550
Tags
Green Green List (high evidence)
NPC1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Niemann-Pick disease, type D 257220
  • Niemann-Pick disease, type C1 257220
Tags
Green Green List (high evidence)
NPC2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Niemann-pick disease, type C2 607625
Tags
Green Green List (high evidence)
PPT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 256730
Tags
Green Green List (high evidence)
PSAP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Krabbe disease, atypical 611722
  • Combined SAP deficiency 611721
  • Gaucher disease, atypical 610539
  • Metachromatic leukodystrophy due to SAP-b deficiency 249900
Tags
Green Green List (high evidence)
SGSH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900
Tags
Green Green List (high evidence)
SLC17A5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Salla disease 604369
  • Sialic acid storage disorder, infantile 269920
Tags
Green Green List (high evidence)
SMPD1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Niemann-Pick disease, type A 257200
  • Niemann-Pick disease, type B 607616
Tags
Green Green List (high evidence)
SUMF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple sulfatase deficiency 272200
Tags
Green Green List (high evidence)
TPP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2 204500
Tags
Amber Amber List (moderate evidence)
ARSG
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • North London GLH
Phenotypes
  • Usher syndrome, type IV 618144
Tags

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