PanelApp (test)
  1. Panels
  2. Mandibulofacial Acrofacial dysostosis
Description
This panel was developed and is maintained by VCGS.

This panel contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.
Panel Activity

5 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

36 Entities

36 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
36 Entitiess
Green Green List (high evidence)
DHODH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Miller syndrome, MIM# 263750
Tags
Green Green List (high evidence)
EDNRA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Mandibulofacial dysostosis with alopecia, MIM# 616367
Tags
Green Green List (high evidence)
EFTUD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
  • Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516
Tags
Green Green List (high evidence)
EIF4A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR
Green Green List (high evidence)
EIF4A3_RCPS_complex
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome
Tags
Green Green List (high evidence)
EVC
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Weyers acrofacial dysostosis, MIM# 193530
  • Ellis-van Creveld syndrome, MIM# 225500
Tags
Green Green List (high evidence)
EVC2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Ellis-van Creveld syndrome, MIM# 225500
  • Weyers acrofacial dysostosis, MIM# 193530
Tags
Green Green List (high evidence)
FOXI3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Craniofacial microsomia 2, MIM# 620444
Tags
Green Green List (high evidence)
GNAI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Auriculocondylar syndrome 1, OMIM #602483
Tags
Green Green List (high evidence)
GSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471
Tags
Green Green List (high evidence)
MTX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification
Tags
Green Green List (high evidence)
MYT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Craniofacial microsomia
  • OAV spectrum
Tags
Green Green List (high evidence)
PBX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641
Tags
Green Green List (high evidence)
PLCB4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458
Tags
Green Green List (high evidence)
POLD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381
Tags
Green Green List (high evidence)
POLR1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Acrofacial dysostosis, Cincinnati type, MIM# 616462
Tags
Green Green List (high evidence)
POLR1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Treacher-Collins syndrome type 4
Tags
Green Green List (high evidence)
POLR1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Treacher Collins syndrome 3, MIM# 248390
Tags
Green Green List (high evidence)
POLR1D
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Treacher Collins syndrome 2, MIM# 613717
Tags
Green Green List (high evidence)
PRRX1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Agnathia-otocephaly complex, MIM# 202650
Tags
Green Green List (high evidence)
RBM10
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • TARP syndrome, MIM# 311900
Tags
Green Green List (high evidence)
RPS28
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Tags
Green Green List (high evidence)
SF3B2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Craniofacial microsomia, MIM#164210
Tags
Green Green List (high evidence)
SF3B4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Acrofacial dysostosis 1, Nager type, MIM# 154400
Tags
Green Green List (high evidence)
SNRPB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cerebrocostomandibular syndrome, MIM# 117650
Tags
  • 5'UTR
  • deep intronic
Green Green List (high evidence)
TCOF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Treacher Collins syndrome 1, MIM# 154500
Tags
Green Green List (high evidence)
TMCO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980
Tags
Green Green List (high evidence)
TXNL4A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Burn-McKeown syndrome, MIM# 608572
  • Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064
Tags
  • 5'UTR
  • SV/CNV
Green Green List (high evidence)
VGLL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Disease associations
  • Syngnathia, MONDO:0015409, VGLL2-related
Tags
Amber Amber List (moderate evidence)
EDN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Auriculocondylar syndrome 3, MIM# 615706
Tags
Amber Amber List (moderate evidence)
OTX2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Disease associations
  • Otocephaly-dysgnathia complex
Tags
Amber Amber List (moderate evidence)
RPL11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Diamond-Blackfan anemia 7, MIM# 612562
  • MONDO:0012938
Tags
Amber Amber List (moderate evidence)
RPL5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Diamond-Blackfan anemia 6, MIM# 612561
  • MONDO:0012937
Tags
Amber Amber List (moderate evidence)
RPS26
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Diamond-Blackfan anemia 10, MIM# 613309
  • MONDO:0013217
Tags
Amber Amber List (moderate evidence)
SHROOM3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Craniofacial microsomia MONDO:0015397
Tags
Red Red List (low evidence)
TSR2
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Tags

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