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  2. Amelogenesis imperfecta
The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Amelogenesis imperfecta (Version 4.26)

Level 2: Musculoskeletal

Relevant disorders: Amelogenesis Imperfecta, R340
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v4.0 (30 Apr 2025)
Previously signed off versions: v3.0, v2.2
Previous code: 58c7f3c78f620328d77ce70e
Description
This panel is used for clinical indication 'R340 Amelogenesis imperfecta' 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 'R340 Amelogenesis imperfecta'.

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K
Panel Activity

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • emma baple (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Claire Smith (University of Leeds)

    Group: Other
    Workplace: Research lab

  • Eleanor Williams (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

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

44 Entities

44 reviewed, 31 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green List (high evidence)
ACP4
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Amelogenesis imperfecta, type IJ, 617297
  • hypoplastic amelogenesis imperfecta
Tags
Green List (high evidence)
AMBN
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amelogenesis imperfecta, type IF, OMIM:616270
Tags
  • cnv
Green List (high evidence)
AMELX
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type 1E, 301200
  • iX-linked hypoplastic amelogenesis imperfecta
  • hypomaturation AI with variable hypoplastic foci
  • smooth hypoplastic AI
Tags
  • deletions
Green List (high evidence)
C4orf26
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IIA4, 614832
  • Amelogenesis Imperfecta, Type IIA4, 614832
  • hypomineralized amelogenesis imperfecta
Tags
  • new-gene-name
Green List (high evidence)
CNNM4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Other
Phenotypes
  • Jalili syndrome, 217080 (includes amelogenesis imperfecta)
  • cone-rod dystrophy and amelogenesis imperfecta
Tags
Green List (high evidence)
COL17A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 (includes enamel pitting)
  • Hypoplastic amelogenesis imperfecta
Tags
  • monogenic-polygenic
Green List (high evidence)
DLX3
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IV, 104510
  • Amelogenesis Imperfecta, Type IV, 104510
  • Amelogenesis Imperfecta, Dominant
  • amelogenesis imperfecta with taurodontism
  • Trichodontoosseous syndrome, 190320
  • Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia)
  • hypoplastic AI, taurodontism and kinky hair
  • Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic
Tags
Green List (high evidence)
ENAM
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IB, 104500
  • Amelogenesis imperfecta, type IC, 204650
  • Amelogenesis Imperfecta, Dominant
  • autosomal recessive amelogenesis imperfecta
Tags
Green List (high evidence)
FAM20A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690
  • Amelogenesis Imperfecta, Type IG, 204690
  • Hypomieralised AI
Tags
Green List (high evidence)
FAM20C
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Raine Syndrome, 259775
  • hypoplastic Amelogenesis Imperfecta
Tags
Green List (high evidence)
FAM83H
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type III, 130900
  • Amelogenesis Imperfecta, Type III, 130900
  • Hypocalcified AI
Tags
Green List (high evidence)
GPR68
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, hypomaturation type, IIA6, 617217
Tags
  • deletions
Green List (high evidence)
ITGB6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • amelogenesis imperfecta (non-syndromic form)
  • Amelogenesis imperfecta, type IH, 616221
  • Amelogenesis imperfecta, type IH, 616221
Tags
Green List (high evidence)
KLK4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IIA1, 204700
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700
Tags
Green List (high evidence)
LAMA3
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, hypoplastic type
  • Epidermolysis bullosa, generalized atrophic benign 226650
  • Epidermolysis bullosa, junctional, Herlitz type 226700
  • Laryngoonychocutaneous syndrome 245660
Tags
  • monogenic-polygenic
Green List (high evidence)
LAMB3
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IA, 104530
  • Amelogenesis Imperfecta, Type IA, 104530
  • Epidermolysis bullosa, junctional, Herlitz type, 26700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
Tags
Green List (high evidence)
LTBP3
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Dental anomalies and short stature, OMIM:601216
Tags
Green List (high evidence)
MMP20
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IIA2, 612529
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529
  • Amelogenesis Imperfecta, Recessive
Tags
Green List (high evidence)
ORAI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Immunodeficiency 9, 612782
Tags
Green List (high evidence)
PEX1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta)
  • hypomineralized amelogenesis imperfecta
  • amelogenesis imperfecta
  • Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100
Tags
Green List (high evidence)
PEX26
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Amelogenesis Imperfecta, MONDO:0019507
  • Heimler syndrome
Tags
Green List (high evidence)
PEX6
5 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
  • UKGTN
Phenotypes
  • Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta)
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Peroxisome biogenesis disorder 4B, 614863
Tags
Green List (high evidence)
PLXNB2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • amelogenesis imperfecta, MONDO:0019507
  • sensorineural hearing loss disorder, MONDO:0020678
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
Green List (high evidence)
RELT
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • amelogenesis imperfecta (hypoplastic)
  • Amelogenesis imperfecta, type IIIC, 618386
Tags
Green List (high evidence)
ROGDI
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Kohlschutter-Tonz syndrome, 226750
  • Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Tags
Green List (high evidence)
SLC10A7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • skeletal dysplasia and amelogenesis imperfecta
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363
  • short stature
  • amelogenesis imperfect hypo mineralised
  • skeletal dysplasia
  • scoliosis
Tags
Green List (high evidence)
SLC13A5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kohlschütter-Tönz syndrome(KTZS)
  • hypoplastic amelogenesis imperfecta
  • Epileptic encephalopathy, early infantile, 25 615905
Tags
Green List (high evidence)
SLC24A4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • amelogenesis imperfecta (non-syndromic form)
  • Amelogenesis imperfecta, type IIA5, 615887
  • hypomaturation/hypomineralised amelogenesis imperfecta
Tags
Green List (high evidence)
SP6
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Amelogenesis Imperfecta, MONDO:0019507
Tags
Green List (high evidence)
STIM1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Immunodeficiency 10, 612783
Tags
Green List (high evidence)
WDR72
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amelogenesis imperfecta, type IIA3, 613211
  • Amelogenesis Imperfecta, Type IIA3, 613211
  • Amelogenesis Imperfecta, Recessive
  • Hypomaturation AI
Tags
Amber List (moderate evidence)
AIRE
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
  • autoimmune polyendocrine syndrome type 1, MONDO:0009411
  • amelogenesis imperfecta, MONDO:0019507
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
AMTN
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Amelogenesis imperfecta
  • dominant hypomineralised AI
  • Amelogenesis imperfecta, hypomaturation type
  • ?Amelogenesis imperfecta, type IIIB, 617607
Tags
  • deletions
  • watchlist
Amber List (moderate evidence)
CLDN16
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis, MONDO:0017624
  • amelogenesis imperfecta, MONDO:0019507
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
CLDN19
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
Tags
Amber List (moderate evidence)
ITGB4
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Amelogenesis Imperfecta
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting)
Tags
  • watchlist
Amber List (moderate evidence)
LAMC2
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Amber
  • UKGTN
Phenotypes
  • amelogenesis imperfecta, MONDO:0019507
Tags
  • watchlist
Amber List (moderate evidence)
NECTIN4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1, OMIM:613573
  • ectodermal dysplasia-syndactyly syndrome 1, MONDO:0024565
  • amelogenesis imperfecta, MONDO:0019507
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
SMARCD2
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Specific granule deficiency 2, OMIM:617475
Tags
Amber List (moderate evidence)
TP63
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292
  • ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, MONDO:0011428
Tags
  • Q4_25_expert_review
  • Q4_25_promote_green
Red List (low evidence)
KCNJ1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Bartter syndrome, type 2, 241200
  • Amelogenesis Imperfecta
Tags
Red List (low evidence)
TMEM165
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • amelogenesis imperfecta
Tags
Red List (low evidence)
TUFT1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Woolly hair-skin fragility syndrome, OMIM:620415
Tags
No list
ALPL
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Literature
Tags

Major version comments

  • 2025-04-30 16:17 Arina Puzriakova (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 14:59 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.

    2019-09-04 13:55 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
    The content of this panel (version 1.16) was signed off under NHS Genomic Medicine Service governance on (04/September/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    2018-02-02 13:39 Sarah Leigh (Genomics England) promoted panel to 1.0
    This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

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

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