Description
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 (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/529/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (18/02/2020).

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 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.

5 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

56 Entities

56 reviewed, 50 green

List Entity Reviews Mode of inheritance Details
56 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 OMIM:208400
  • aspartylglucosaminuria MONDO:0008830
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 OMIM:250100
  • metachromatic leukodystrophy, juvenile form MONDO:0009591
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) OMIM:253200
  • mucopolysaccharidosis type 6 MONDO:0009661
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 OMIM:228000
  • Farber lipogranulomatosis MONDO:0009218
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 OMIM:204200
  • neuronal ceroid lipofuscinosis 3 MONDO:0008767
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 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
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 OMIM:601780
  • neuronal ceroid lipofuscinosis 6 MONDO:0011144
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300
  • neuronal ceroid lipofuscinosis 4A MONDO:0008768
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 OMIM:600143
  • neuronal ceroid lipofuscinosis 8 MONDO:0010830
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
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 OMIM:219800
  • Cystinosis, nephropathic OMIM:219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900
  • Cystinosis, ocular nonnephropathic OMIM:219750
  • nephropathic cystinosis MONDO:0100151
  • juvenile nephropathic cystinosis MONDO:0009066
  • ocular cystinosis MONDO:0009064
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 OMIM:256540
  • galactosialidosis MONDO:0009737
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 OMIM:610127
  • neuronal ceroid lipofuscinosis 10 MONDO:0012414
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 OMIM:265800
  • pycnodysostosis MONDO:0009940
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 OMIM:162350
  • neuronal ceroid lipofuscinosis 4B MONDO:0008083
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 OMIM:230000
  • fucosidosis MONDO:0009254
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 OMIM:232300
  • glycogen storage disease II MONDO:0009290
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 OMIM:245200
  • Krabbe disease MONDO:0009499
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 OMIM:253000
  • mucopolysaccharidosis type 4A MONDO:0009659
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 OMIM:230800
  • Gaucher disease type I MONDO:0009265
  • Gaucher disease, type III OMIM:231000
  • Gaucher disease type III MONDO:0009267
  • Gaucher disease, type IIIC OMIM:231005
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268
  • Gaucher disease, perinatal lethal OMIM:608013
  • Gaucher disease perinatal lethal MONDO:0011945
  • Gaucher disease, type II OMIM:230900
  • Gaucher disease type II MONDO:0009266
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 OMIM:301500
  • Fabry disease MONDO:0010526
Tags
Green Green List (high evidence)
GLB1
2 reviews
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) OMIM:253010
  • mucopolysaccharidosis type 4B MONDO:0009660
  • GM1-gangliosidosis, type III OMIM:230650
  • GM1 gangliosidosis type 3 MONDO:0009262
  • GM1-gangliosidosis, type I OMIM:230500
  • GM1 gangliosidosis type 1 MONDO:0009260
  • GM1-gangliosidosis, type II OMIM:230600
  • GM1 gangliosidosis type 2 MONDO:0009261
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 OMIM:272750
  • Tay-Sachs disease AB variant MONDO:0010099
Tags
Green Green List (high evidence)
GNE
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North London GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Sialuria OMIM:269921
  • sialuria MONDO:0010028
  • Nonaka myopathy OMIM:605820
  • GNE myopathy MONDO:0011603
Tags
  • Q2_21_MOI
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 OMIM:252500
  • mucolipidosis type II MONDO:0009650
  • Mucolipidosis III alpha/beta OMIM:252600
  • mucolipidosis type III MONDO:0018931
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 OMIM:252605
  • mucolipidosis type III gamma MONDO:0009652
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 OMIM:253220
  • mucopolysaccharidosis type 7 MONDO:0009662
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 OMIM:272800
  • GM2-gangliosidosis, several forms OMIM:272800
  • Tay-Sachs disease MONDO:0010100
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 OMIM:268800
  • Sandhoff disease MONDO:0010006
Tags
Green Green List (high evidence)
HGSNAT
3 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) OMIM:252930
  • Sanfilippo syndrome type C MONDO:0009657
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 OMIM:601492
  • mucopolysaccharidosis type 9 MONDO:0011093
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 OMIM:309900
  • mucopolysaccharidosis type 2 MONDO:0010674
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 OMIM:607014
  • Hurler syndrome MONDO:0011758
  • Mucopolysaccharidosis Is OMIM:607016
  • Scheie syndrome MONDO:0011760
  • Mucopolysaccharidosis Ih/s OMIM:607015
  • Hurler-Scheie syndromeMONDO:0011759
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 OMIM:300257
  • Danon disease MONDO:0010281
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 OMIM:278000
  • Wolman disease OMIM:278000
  • lysosomal acid lipase deficiency MONDO:0010204
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 OMIM:248500
  • alpha-mannosidosis MONDO:0009561
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 OMIM:248510
  • beta-mannosidosis MONDO:0009562
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 OMIM:252650
  • mucolipidosis type IV MONDO:0009653
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 OMIM:610951
  • neuronal ceroid lipofuscinosis 7 MONDO:0012588
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 OMIM:609241
  • Schindler disease, type III OMIM:609241
  • alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221
  • Kanzaki disease OMIM:609242
  • alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222
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) OMIM:252920
  • Sanfilippo syndrome type B MONDO:0009656
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 OMIM:256550
  • Sialidosis, type I OMIM:256550
  • sialidosis type 2 MONDO:0009738
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 OMIM:257220
  • Niemann-Pick disease, type C1 OMIM:257220
  • Niemann-Pick disease, type C1 MONDO:0009757
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 OMIM:607625
  • Niemann-Pick disease, type C2 MONDO:0011873
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 OMIM:256730
  • neuronal ceroid lipofuscinosis 1 MONDO:0009744
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 OMIM:611722
  • Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720
  • Combined SAP deficiency OMIM:611721
  • encephalopathy due to prosaposin deficiency MONDO:0012719
  • Gaucher disease, atypical OMIM:610539
  • atypical Gaucher disease due to saposin C deficiency MONDO:0012517
  • Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900
  • metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
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) OMIM:252900
  • Sanfilippo syndrome type A MONDO:0009655
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 OMIM:604369
  • Salla disease MONDO:0011449
  • Sialic acid storage disorder, infantile OMIM:269920
  • free sialic acid storage disease, infantile form MONDO:0010027
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 OMIM:257200
  • Niemann-Pick disease type A MONDO:0009756
  • Niemann-Pick disease, type B OMIM:607616
  • Niemann-Pick disease type B MONDO:0011871
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 OMIM:272200
  • mucosulfatidosis MONDO:0010088
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 OMIM:204500
  • neuronal ceroid lipofuscinosis 2 MONDO:0008769
Tags
Amber Amber List (moderate evidence)
ARSG
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • North London GLH
Phenotypes
  • Usher syndrome, type IV OMIM:618144
  • usher syndrome, type 4 MONDO:0029141
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
ATP13A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 78, autosomal recessive OMIM:617225
  • autosomal recessive spastic paraplegia type 78 MONDO:0014975
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
CLCN7
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Tags
  • watchlist
Amber Amber List (moderate evidence)
CTSF
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
  • neuronal ceroid lipofuscinosis 13 MONDO:0014147
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
VPS16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mucopolysaccharidosis-like syndrome (biallelic)
  • Dystonia Associated with Lysosomal Abnormalities (monoallelic)
  • Dystonia 30, OMIM:619291
Tags
  • Q2_21_MOI
  • Q2_21_rating
Amber Amber List (moderate evidence)
VPS33A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mucopolysaccharidosis-plus syndrome OMIM:617303
  • mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Tags
  • Q2_21_expert_review

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