Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
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
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
Phenotypes
- Agammaglobulinemia and isolated hormone deficiency 307200
- Agammaglobulinemia, X-linked 1 300755
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Emory Genetics Laboratory
Phenotypes
- Early Onset Inflammatory Bowel Disease
- Agammaglobulinemia and isolated hormone deficiency 307200
- Agammaglobulinemia, X-linked 1 300755
|
Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
|
Level 2: Viral research
Version 1.141
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Agammaglobulinemia, X-linked 1, 300755
- Agammaglobulinemia, X-linked
- Agammaglobulinemia, X-linked 1 (XLA)
- Agammaglobulinemia
- Severe bacterial infections, normal numbers of pro-B cells
- agammaglobulinaemia
- Agammaglobulinemia and isolated hormone deficiency, 307200
- Agammaglobulinemia and isolated hormone deficiency
- Predominantly Antibody Deficiencies
- CVID
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)
|
Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Agammaglobulinemia and isolated hormone deficiency
- Agammaglobulinemia, X-linked
- Agammaglobulinemia, X-linked 1, 300755
- Agammaglobulinemia and isolated hormone deficiency, 307200
- Agammaglobulinemia, X-linked 1 (XLA)
- Agammaglobulinemia
- agammaglobulinaemia
- CVID
- Severe bacterial infections, normal numbers of pro-B cells
- Predominantly Antibody Deficiencies
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
|
Version 3.88
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- Agammaglobulinemia and isolated hormone deficiency 307200
- Agammaglobulinemia, X-linked 1 300755
|
Version 3.46
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
|
Version 1.184
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200
- Agammaglobulinemia, X-linked 1, 300755
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Green
|