PanelApp (test)
  1. Panels
  2. Amelogenesis imperfecta
Description
This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.

Consider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.

With thanks to Genomics England PanelApp for the original design of this panel.
Panel Activity

7 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Meaghan Wall (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

41 Entities

41 reviewed, 36 green

List Entity Reviews Mode of inheritance Details
41 Entitiess
Green Green List (high evidence)
ACP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IJ, MIM#617297
  • hypoplastic amelogenesis imperfecta
Tags
Green Green List (high evidence)
AMBN
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IF, MIM#616270
Tags
Green Green List (high evidence)
AMELX
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
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type 1E, 301200
  • hypomaturation AI with variable hypoplastic foci
  • smooth hypoplastic AI
Tags
  • SV/CNV
Green Green List (high evidence)
C4orf26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis Imperfecta, Type IIA4, MIM#614832
  • hypomineralized amelogenesis imperfecta
Tags
  • new gene name
Green Green List (high evidence)
CLDN16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypomagnesaemia 3, renal, MIM# 248250
  • Amelogenesis imperfecta
Tags
Green Green List (high evidence)
CLDN19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190
  • Amelogenesis imperfecta
Tags
Green Green List (high evidence)
CNNM4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Jalili syndrome, MIM#217080
  • cone-rod dystrophy and amelogenesis imperfecta
Tags
Green Green List (high evidence)
COL17A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting)
  • Amelogenesis imperfecta MONDO:0019507, COL17A1-related
Tags
Green Green List (high evidence)
DLX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IV, MIM# 104510
  • Trichodontoosseous syndrome, MIM# 190320
Tags
Green Green List (high evidence)
DSPP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dentinogenesis imperfecta, Shields type II, OMIM #125490
Tags
Green Green List (high evidence)
ENAM
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IB, MIM# 104500
  • Amelogenesis imperfecta, type IC, MIM# 204650
Tags
Green Green List (high evidence)
FAM20A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Tags
Green Green List (high evidence)
FAM20C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Raine syndrome MIM#259775
  • hypoplastic Amelogenesis Imperfecta
Tags
Green Green List (high evidence)
FAM83H
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIA MIM#130900
Tags
Green Green List (high evidence)
GPR68
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217
Tags
Green Green List (high evidence)
ITGB4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Tags
Green Green List (high evidence)
ITGB6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IH, MIM# 616221
Tags
Green Green List (high evidence)
KLK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA1, MIM# 204700
Tags
Green Green List (high evidence)
LAMA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, generalized atrophic benign, MIM# 226650
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Laryngoonychocutaneous syndrome, MIM# 245660
Tags
Green Green List (high evidence)
LAMB3
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IA, MIM# 104530
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Tags
Green Green List (high evidence)
LAMC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Tags
Green Green List (high evidence)
LTBP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Dental anomalies and short stature, 601216
  • Amelogenesis Imperfecta
  • syndromic AI with brachyolmia
Tags
Green Green List (high evidence)
MMP20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA2, MIM# 612529
Tags
Green Green List (high evidence)
ORAI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Immunodeficiency 9, MIM# 612782
  • Hypocalcified amelogenesis imperfecta
Tags
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Heimler syndrome 1, MIM# 234580
Tags
Green Green List (high evidence)
PEX26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Heimler syndrome
  • Amelogenesis imperfecta
Tags
Green Green List (high evidence)
PEX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Heimler syndrome 2, MIM# 616617
Tags
Green Green List (high evidence)
PLXNB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease MONDO:0002254, PLXNB2 -related
Tags
Green Green List (high evidence)
RELT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIC, MIM# 618386
Tags
Green Green List (high evidence)
ROGDI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Kohlschutter-Tonz syndrome MIM #226750
  • Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Tags
Green Green List (high evidence)
SLC10A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MIM#618363)
Tags
Green Green List (high evidence)
SLC13A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Tags
Green Green List (high evidence)
SLC24A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA5, MIM# 615887
Tags
Green Green List (high evidence)
SP6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IK, MIM# 620104
Tags
Green Green List (high evidence)
STIM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Immunodeficiency 10, MIM# 612783
  • Hypomineralised amelogenesis imperfecta
Tags
Green Green List (high evidence)
WDR72
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211
Tags
Red Red List (low evidence)
AMTN
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIIB
Tags
Red Red List (low evidence)
KCNJ1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis Imperfecta
  • Bartter syndrome, type 2, 241200
Tags
Red Red List (low evidence)
SMARCD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Specific granule deficiency 2, 617475
Tags
Red Red List (low evidence)
TMEM165
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Congenital disorder of glycosylation, type IIk, MIM# 614727
  • amelogenesis imperfecta
Tags
Red Red List (low evidence)
TP63
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Split-hand/foot malformation 4, MIM# 605289
Tags

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