Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
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review
|
Not set
|
Sources
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- London North GLH
- 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
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- recurrent pyogenic bacterial infection
- Defects of TLR/NFkappa-B signalling
- Defects in Intrinsic and Innate Immunity
- Bacterial infections (pyogens)
- Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
- Defects of TLR/NFkappa-B signalling
- recurrent pyogenic bacterial infection
- Bacterial infections (pyogens)
- Defects in Intrinsic and Innate Immunity
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
- Macroglobulinemia, Waldenstrom, somatic, 153600
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
|