PanelApp (stage)
  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

4 reviewers

  • Chirag Patel (Genetic Health Queensland)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

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

33 Entities

33 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green Green List (high evidence)
DHODH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR
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
Phenotypes
  • 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
Phenotypes
  • Ellis-van Creveld syndrome, MIM# 225500
  • Weyers acrofacial dysostosis, MIM# 193530
Tags
Green Green List (high evidence)
FOXI3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dysostosis with predominant craniofacial involvement (MONDO:0800085)
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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Auriculocondylar syndrome 2A, MIM# 614669
  • Auriculocondylar syndrome 2B, MIM# 620458
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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • TARP syndrome, MIM# 311900
Tags
Green Green List (high evidence)
SF3B2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Diamond-Blackfan anemia 10, MIM# 613309
  • MONDO:0013217
Tags
Amber Amber List (moderate evidence)
RPS28
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
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
Phenotypes
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Tags

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