1. Panels
  2. Neuronal ceroid lipofuscinosis
The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Neuronal ceroid lipofuscinosis (Version 3.2)

Level 2: Metabolic

Relevant disorders: R231
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (30 Apr 2025)
Previously signed off versions: v2.0, v1.3
Description
This panel is used for clinical indication 'R231 Neuronal ceroid lipofuscinosis' 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 'R231 Neuronal ceroid lipofuscinosis'.

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.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.
Panel Activity

5 reviewers

  • Emma Ashton (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    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

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

14 Entities

14 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green List (high evidence)
ATP13A2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Kufor-Rakeb syndrome OMIM:606693
  • Kufor-Rakeb syndrome MONDO:0011706
Tags
Green List (high evidence)
CLCN6
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Tags
Green List (high evidence)
CLN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 OMIM:204200
  • neuronal ceroid lipofuscinosis 3 MONDO:0008767
Tags
Green List (high evidence)
CLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
Green List (high evidence)
CLN6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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 List (high evidence)
CLN8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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 List (high evidence)
CTSD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
  • neuronal ceroid lipofuscinosis 10 MONDO:0012414
Tags
Green List (high evidence)
CTSF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
  • neuronal ceroid lipofuscinosis 13 MONDO:0014147
Tags
Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350
  • neuronal ceroid lipofuscinosis 4B MONDO:0008083
Tags
Green List (high evidence)
GRN
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
  • neuronal ceroid lipofuscinosis 11 MONDO:0013866
Tags
Green List (high evidence)
KCTD7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726
  • progressive myoclonic epilepsy type 3 MONDO:0012721
Tags
Green List (high evidence)
MFSD8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 OMIM:610951
  • neuronal ceroid lipofuscinosis 7 MONDO:0012588
Tags
Green List (high evidence)
PPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 OMIM:256730
  • neuronal ceroid lipofuscinosis 1 MONDO:0009744
Tags
Green List (high evidence)
TPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2 OMIM:204500
  • neuronal ceroid lipofuscinosis 2 MONDO:0008769
Tags

Major version comments

  • 2025-04-30 16:41 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

    2023-03-22 16:33 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
    The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

    2019-09-17 11:18 Sarah Leigh (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.11) was signed off under NHS Genomic Medicine Service governance on (17/09/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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