PanelApp
  1. Panels
  2. Inflammatory bowel disease
Description
This panel was developed and is maintained by VCGS.
Panel Activity

11 reviewers

  • Nicola Poplawski (South Australian Clinical Genetics Service)

  • Chris Richmond (Genetic Health Queensland)

  • Lavvina Thiyagarajan (Sydney Children's Hospital Network)

  • Aimee Huynh (Queensland Health)

  • Achchuthan Shanmugasundram (Genomics England)

  • Peter McNaughton (Queensland Children's Hospital)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Santosh Varughese (University of Melbourne)

  • Krithika Murali (Victorian Clinical Genetics Services)

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

84 Entities

46 reviewed, 66 green

List Entity Reviews Mode of inheritance Details
84 Entitiess
Green Green List (high evidence)
ADA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADAM17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328
  • Recurrent infections
Tags
Green Green List (high evidence)
AICDA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ANKZF1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
Tags
Green Green List (high evidence)
BACH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 60, MIM# 618394
  • inflammatory bowel disease
  • recurrent sinopulmonary infections
Tags
Green Green List (high evidence)
BTK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CARMIL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Early onset paediatric inflammatory bowel disease
Tags
Green Green List (high evidence)
CD3G
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD40LG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CTLA4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CYBA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CYBB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DCLRE1C
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DKC1
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, X-linked, MIM# 305000
Tags
Green Green List (high evidence)
DOCK11
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
  • Inflammatory bowel disease
Tags
Green Green List (high evidence)
DOCK8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DUOX2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, DUOX2-related
Tags
Green Green List (high evidence)
ELF4
2 reviews
2 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
  • Literature
Phenotypes
  • Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
Tags
Green Green List (high evidence)
FOXP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
G6PC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GUCY2C
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ICOS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFIH1
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inflammatory Bowel Disease
Tags
Green Green List (high evidence)
IKBKG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Diseases of Immune Dysregulation
  • Early-onset inflammatory bowel disease
Tags
Green Green List (high evidence)
IL10RA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Tags
Green Green List (high evidence)
IL10RB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Tags
Green Green List (high evidence)
IL2RA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL2RB
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
Tags
Green Green List (high evidence)
IL2RG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITGB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LIG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LIG4 syndrome, MIM# 606593
Tags
Green Green List (high evidence)
LRBA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MEFV
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MVK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NCF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NCF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Tags
Green Green List (high evidence)
NOD2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • {Inflammatory bowel disease 1, Crohn disease} 266600
  • {Yao syndrome} 617321
Tags
Green Green List (high evidence)
OTULIN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Tags
Green Green List (high evidence)
PIK3CD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAG1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAG2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RELA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucocutaneous ulceration, chronic, MIM# 618287
  • Inflammatory bowel disease
Tags
Green Green List (high evidence)
RIPK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 57, MIM#618108
Tags
Green Green List (high evidence)
RTEL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MIRAGE syndrome, MIM# 617053
Tags
Green Green List (high evidence)
SH2D1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SKIV2L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC37A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLCO2A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
  • Enteropathy
Tags
Green Green List (high evidence)
SOCS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
  • Enteropathy
Tags
Green Green List (high evidence)
STAT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STAT3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STXBP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STXBP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Very Early Onset Inflammatory Bowel Disease
  • Bilateral Sensorineural Hearing Loss
  • Immune Dysregulation
Tags
Green Green List (high evidence)
TGFBR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TGFBR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNFAIP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inflammatory bowel disease
  • Crohn's disease
  • Autoinflammatory syndrome, familial, Behcet-like
Tags
Green Green List (high evidence)
TRIM22
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease
Tags
Green Green List (high evidence)
TTC37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM#222470
  • Colitis
  • Pancolitis
  • Inflammatory bowel disease-like phenotype
  • Very Early Onset Inflammatory Bowel Disease
Tags
Green Green List (high evidence)
TTC7A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Very Early Onset Inflammatory Bowel Disease (VEOIBD)
Tags
Green Green List (high evidence)
WAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
XIAP
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • X-linked lymphoproliferative syndrome 2
  • inflammatory bowel disease
  • colitis
Tags
Amber Amber List (moderate evidence)
ALPI
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, ALPI-related
Tags
Amber Amber List (moderate evidence)
C17orf62
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Chronic granulomatous disease
Tags
Amber Amber List (moderate evidence)
CARD8
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Inflammatory bowel disease-30, MIM#619079
Tags
Amber Amber List (moderate evidence)
EPCAM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Tags
Amber Amber List (moderate evidence)
HSPA1L
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • inflammatory bowel disease, MONDO:0005265, HSPA1L-related
Tags
Amber Amber List (moderate evidence)
NLRC4
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autoinflammation with infantile enterocolitis, MIM# 616050
Tags
Amber Amber List (moderate evidence)
NOX1
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, NOX1-related
Tags
Amber Amber List (moderate evidence)
SLC9A3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Diarrhoea 8, secretory sodium, congenital 616868
  • Very Early Onset Inflammatory Bowel Disease
Tags
Amber Amber List (moderate evidence)
TGFB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Tags
Amber Amber List (moderate evidence)
ZAP70
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2
  • inflammatory colitis
Tags
Red Red List (low evidence)
COL7A1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa dystrophica, AR, MIM# 226600
Tags
Red Red List (low evidence)
FERMT1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Kindler syndrome, MIM# 173650
Tags
Red Red List (low evidence)
FMNL2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • inflammatory bowel disease, MONDO:0005265, FMNL2-related
Tags
Red Red List (low evidence)
IL21
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 11, MIM# 615767
Tags
Red Red List (low evidence)
IL37
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Tags
Red Red List (low evidence)
LY96
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, LY96-related
  • Colitis
Tags
Red Red List (low evidence)
PMM2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia, MIM# 212065
  • Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease
Tags
Red Red List (low evidence)
PTEN
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Colitis
Tags

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