1. Panels
  2. Laterality disorders and isomerism
The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Laterality disorders and isomerism (Version 4.10)

Level 2: Respiratory

Relevant disorders: R139
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v4.0 (30 Apr 2025)
Previously signed off versions: v3.9, v3.0, v2.0, v1.19
Description
This panel is used for clinical indication 'R139 Laterality disorders and isomerism' 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 'R139 Laterality disorders and isomerism'.

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

14 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Karen Stals (Royal Devon and Exeter Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

    Group: Other NHS organisation
    Workplace: Other diagnostic lab

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

68 Entities

68 reviewed, 35 green

List Entity Reviews Mode of inheritance Details
68 Entitiess
Green List (high evidence)
AL117258.1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 12, autosomal, OMIM:619702
Tags
  • gene-checked
  • new-gene-name
Green List (high evidence)
ARL2BP
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, OMIM:615434
  • retinitis pigmentosa with or without situs inversus, MONDO:0014186
Tags
Green List (high evidence)
ARMC4
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 23, OMIM:615451
Tags
  • new-gene-name
Green List (high evidence)
C11orf70
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 38, OMIM:618063
Tags
  • gene-checked
  • new-gene-name
Green List (high evidence)
C1orf127
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 14, autosomal, OMIM:621080
  • heterotaxy, visceral, 14, autosomal, MONDO:0976135
Tags
  • gene-checked
  • new-gene-name
Green List (high evidence)
C21orf59
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green List (high evidence)
CCDC103
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Tags
  • new-gene-name
Green List (high evidence)
CCDC114
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
  • new-gene-name
Green List (high evidence)
CCDC151
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
  • new-gene-name
Green List (high evidence)
CCDC39
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
Tags
Green List (high evidence)
CCDC40
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 15, 613808
Tags
Green List (high evidence)
CFAP45
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Situs inversus, MONDO:0010029
  • male infertility due to sperm motility disorder, MONDO:0018395
Tags
Green List (high evidence)
CFAP52
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • visceral heterotaxy, MONDO:0018677
Tags
Green List (high evidence)
CFAP53
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive, 614779
Tags
Green List (high evidence)
DAW1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 52, OMIM:620570
Tags
  • gene-checked
Green List (high evidence)
DNAAF1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
Tags
Green List (high evidence)
DNAAF3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
Tags
Green List (high evidence)
DNAAF4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482
Tags
Green List (high evidence)
DNAAF5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874
Tags
Green List (high evidence)
DNAH11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Tags
Green List (high evidence)
DNAH5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Tags
Green List (high evidence)
DNAH9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia, 40, 618300
Tags
Green List (high evidence)
DNAI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Tags
Green List (high evidence)
DNAI2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
Tags
Green List (high evidence)
FOXJ1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hydrocephalus
  • chronic destructive airway disease
  • randomization of left/right body asymmetry
Tags
Green List (high evidence)
GDF1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital heart defects, multiple types, 6, OMIM:613854
  • Right atrial isomerism (Ivemark), OMIM:208530
Tags
Green List (high evidence)
LRRC56
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 39, OMIM:618254
  • Ciliary dyskinesia, primary, 39, MONDO:0032637
  • Mucociliary Clearance and Laterality Defect
Tags
  • gene-checked
Green List (high evidence)
LRRC6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935
Tags
  • new-gene-name
Green List (high evidence)
MMP21
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 7, autosomal, 616749
Tags
Green List (high evidence)
PIH1D3
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, 300991
Tags
  • new-gene-name
Green List (high evidence)
PKD1L1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 8, autosomal, 617205
Tags
Green List (high evidence)
SPAG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505
Tags
Green List (high evidence)
TTC25
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 35, OMIM:617092
Tags
  • new-gene-name
Green List (high evidence)
ZIC3
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
Phenotypes
  • Heterotaxy, visceral, 1, X-linked, 306955
  • Congenital heart defects, nonsyndromic, 1, X-linked
Tags
Green List (high evidence)
ZMYND10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444
Tags
Amber List (moderate evidence)
ACTC1
2 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
ACTG2
2 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
CCDC32
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Tags
  • gene-checked
  • watchlist
Amber List (moderate evidence)
CCDC65
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 27, OMIM:615504
Tags
  • new-gene-name
Amber List (moderate evidence)
CFC1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 2, autosomal, OMIM:605376
Tags
Amber List (moderate evidence)
CRELD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
Tags
Amber List (moderate evidence)
DNAAF2
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 10, OMIM:612518
Tags
Amber List (moderate evidence)
DNAH1
1 review
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
DNAH6
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Heterotaxy
  • male infertility
Tags
  • watchlist
Amber List (moderate evidence)
DNAH8
1 review
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
DNAL1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 16, 614017
Tags
Amber List (moderate evidence)
FANCB
2 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
LZTFL1
1 review
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber List (moderate evidence)
MNS1
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM: 618948
  • situs inversus, MONDO:0010029
Tags
  • Q1_26_expert_review
  • Q1_26_NHS_review
  • Q1_26_promote_green
Amber List (moderate evidence)
NKX2-5
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • visceral heterotaxy, MONDO:0018677
Tags
Amber List (moderate evidence)
NPHP4
1 review
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Red List (low evidence)
ACVR2B
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Tags
Red List (low evidence)
BRWD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary ciliary dyskinesia, asthenoteratozoospermia
Tags
Red List (low evidence)
CCNO
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
DAND5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Heterotaxy syndrome
Tags
Red List (low evidence)
DNAJB13
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
DRC1
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
GAS8
2 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
  • new-gene-name
Red List (low evidence)
HYDIN
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
LETM1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
Red List (low evidence)
MYH6
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • visceral heterotaxy, MONDO:0018677
Tags
Red List (low evidence)
NME8
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
NODAL
7 reviews
2 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 5, 270100
Tags
Red List (low evidence)
NSD2
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Rauch-Steindl syndrome, OMIM:619695
  • Rauch-Steindl syndrome, MONDO:0859219
Tags
Red List (low evidence)
RSPH1
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
RSPH3
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
RSPH4A
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red List (low evidence)
RSPH9
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags

Major version comments

  • 2025-04-30 16:18 Eleanor Williams (Genomics England Curator) promoted panel to 4.0
    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 (4.0) following this.

    2023-03-22 15:58 Achchuthan Shanmugasundram (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.

    2022-11-30 15:17 Achchuthan Shanmugasundram (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.

    2019-12-09 16:40 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.135) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

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

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