SGPL1

Green SGPL1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

Sources

• Expert Review Green
• Literature

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• London North GLH
• NHS GMS
• North West GLH
• Combined B and T cell defect v1.12
• Expert Review Green
• NHS GMS
• North West GLH
• London North GLH
• Expert Review Green
• Combined B and T cell defect v1.12

Phenotypes

• drenal insufficiency
• focal segmental glomerulosclerosis
• steroid-resistant nephrotic syndrome
• Nephrotic syndrome 14, 617575
• lymphopenia

Green SGPL1 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 3.11
Latest signed off version: v3.0 (30 Nov 2022)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Adrenal insufficiency
• steroid resistant nephrotic syndrome
• neurological deficit
• ichthyosis

Green SGPL1 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• North West GLH
• London North GLH
• Expert Review Green
• Combined B and T cell defect v1.12

Phenotypes

• Nephrotic syndrome 14, 617575
• drenal insufficiency
• steroid-resistant nephrotic syndrome
• focal segmental glomerulosclerosis
• lymphopenia

Green SGPL1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

Sources

• Expert Review Green
• Literature

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in Unexplained young onset end-stage renal disease

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green

Phenotypes

• Fetal hydrops
• Nephrotic syndrome type 14, 617575

Green SGPL1 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Nephrotic syndrome 14 617575

Green SGPL1 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Nephrotic syndrome, type 14, 617575