IKBKG

Panel	Reviews	Mode of inheritance	Details
Filter panels 24 panels
Green IKBKG in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IKBKG in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	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 Victorian Clinical Genetics Services Phenotypes Incontinentia pigmenti, MIM# 308300
Amber IKBKG in Cataract Level 2: Ophthalmological disorders Version 0.366	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Incontinentia pigmenti (308300) / Ectodermal dysplasia and immunodeficiency 1 (300291) Ectodermal dysplasia, anhidrotic, lymphoedema and immunodeficiency (300301) Immunodeficiency 33 (300636) Immunodeficiency, isolated (300584) Invasive pneumococcal disease, recurrent isolated 2 (300640)
Green IKBKG in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.15	review	Other	Sources Expert Review Green Literature Phenotypes Incontinentia pigmenti (MIM#308300) Tags SV/CNV
Green IKBKG in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IKBKG in Lymphoedema_nonsyndromic Level 2: Cardiovascular disorders Version 0.39 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IKBKG in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IKBKG in Mendeliome Version 1.1902	review	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 Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 1, MIM# 300291 Immunodeficiency 33 , MIM#300636 Incontinentia pigmenti, MIM# 308300 Autoinflammatory disease, systemic, X-linked, MIM# 301081 Tags SV/CNV
Green IKBKG in Oligodontia Level 2: Dysmorphic and congenital abnormality syndromes Version 0.29	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 1, MIM# 300291 Immunodeficiency 33 , MIM#300636 Incontinentia pigmenti, MIM# 308300 Tags SV/CNV
Green IKBKG in Osteopetrosis Level 2: Skeletal disorders Version 0.34	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IKBKG in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Incontinentia pigmenti, MIM# 308300
Green IKBKG in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 1 MIM# 300291 Immunodeficiency 33 MIM# 300636
Green IKBKG in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Autoinflammatory disease, systemic, X-linked, MIM# 301081
Green IKBKG in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green IKBKG in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	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 Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 Incontinentia pigmenti 308300
Green IKBKG in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	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 Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 1 MIM3300291 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301 Incontinentia pigmenti MIM#308300
Green IKBKG in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	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 UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Green IKBKG in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	Other	Sources Expert Review Green Expert list Phenotypes Incontinentia pigmenti, MIM# 308300
Green IKBKG in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Green IKBKG in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Incontinentia pigmenti 1
Green IKBKG in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	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 NHS GMS Phenotypes Incontinentia pigmenti, 308300 Tags somatic
Green IKBKG in Fetal anomalies Version 1.255	review	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 Victorian Clinical Genetics Services Phenotypes ncontinentia pigmenti, MIM# 308300
Amber IKBKG in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Mackenzie's Mission Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Amber IKBKG in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BabySeq Category A gene Phenotypes Immunodeficiency 33 (300636) Tags for review treatable immunological technically challenging

IKBKG

24 panels

Green IKBKG in Vasculitis

Sources

Green IKBKG in Anophthalmia_Microphthalmia_Coloboma

Sources

Phenotypes

Amber IKBKG in Cataract

Sources

Phenotypes

Green IKBKG in Epidermolysis bullosa

Sources

Phenotypes

Tags

Green IKBKG in Inflammatory bowel disease

Sources

Green IKBKG in Lymphoedema_nonsyndromic

Sources

Green IKBKG in Macrocephaly_Megalencephaly

Sources

Green IKBKG in Mendeliome

Sources

Phenotypes

Tags

Green IKBKG in Oligodontia

Sources

Phenotypes

Tags

Green IKBKG in Osteopetrosis

Sources

Green IKBKG in Genetic Epilepsy

Sources

Phenotypes

Green IKBKG in Combined Immunodeficiency

Sources

Phenotypes

Green IKBKG in Systemic Autoinflammatory Disease_Periodic Fever

Sources

Phenotypes

Green IKBKG in Intellectual disability syndromic and non-syndromic

Sources

Green IKBKG in Skeletal dysplasia

Sources

Phenotypes

Green IKBKG in Ectodermal Dysplasia

Sources

Phenotypes

Green IKBKG in Lymphoedema_syndromic

Sources

Phenotypes

Green IKBKG in Syndromic Retinopathy

Sources

Phenotypes

Green IKBKG in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green IKBKG in Additional findings_Paediatric

Sources

Phenotypes

Green IKBKG in Mosaic skin disorders

Sources

Phenotypes

Tags

Green IKBKG in Fetal anomalies

Sources

Phenotypes

Amber IKBKG in Prepair 1000+

Sources

Phenotypes

Amber IKBKG in BabyScreen+ newborn screening

Sources

Phenotypes

Tags