Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
Phenotypes
- Lymphedema, hereditary, III, 616843
- LMPH3
- Hereditary lymphoedema type III
- 2nd trimester fetal hydrops, Nuchal translucency likely to be normal, Lethal and non lethal cases within the same family
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.84
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Stomatocytosis
- Dehydrated hereditary stomatocytosis
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
- Hereditary xerocytosis
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Version 1.21
Signed off v.1.2
on 3 Mar 2020
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 194380 Stomatocytosis
- 616843 Lymphatic malformation 6
- 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
- Stomatocytosis
- Hereditary xerocytosis
- Dehydrated hereditary stomatocytosis
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Version 1.641
Signed off v.1.92
on 21 Aug 2020
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE Additional Gene List
- PAGE DD-Gene2Phenotype
Phenotypes
- hydrops fetalis gene 616843
- Congenital lymphatic dysplasia with hydrops and/or lymphoedema
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Version 2.25
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Amber
Phenotypes
- Congenital lymphatic dysplasia with hydrops and/or lymphoedema
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Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 2.8
Signed off v.2.2
on 2 Mar 2020
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London South GLH
- Expert Review Green
- Expert list
Phenotypes
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380
- Lymphatic malformation 6 616843
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Version 1.75
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
- Lymphatic malformation 6, 616843
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