Amelogenesis imperfecta (Version 3.3)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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

9 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
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

40 Entities

40 reviewed, 30 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 40 Entitiess
Green 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 Green List (high evidence)	AMBN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Amelogenesis imperfecta, type IF, 616270 Tags cnv
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	LTBP3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Other UKGTN Phenotypes Dental anomalies and short stature, OMIM:601216 Amelogenesis Imperfecta syndromic AI with brachyolmia Tags
Green 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 Green List (high evidence)	ORAI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Immunodeficiency 9, 612782 Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 Amber List (moderate evidence)	CLDN16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) Tags
Amber 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 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 Amber List (moderate evidence)	LAMC2	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Amber UKGTN Phenotypes Amelogenesis Imperfecta Epidermolysis bullosa, junctional, Herlitz type, 226700 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 Tags watchlist
Red Red List (low evidence)	KCNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Bartter syndrome, type 2, 241200 Amelogenesis Imperfecta Tags
Red Red List (low evidence)	SMARCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Specific granule deficiency 2, 617475 Tags
Red Red List (low evidence)	TMEM165	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes amelogenesis imperfecta Tags
Red Red List (low evidence)	TP63	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta Tags
Red Red List (low evidence)	TUFT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes amelogenesis imperfecta Tags

Major version comments

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

Amelogenesis imperfecta (Version 3.3)

9 reviewers

40 Entities

40 reviewed, 30 green

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