Autoimmune Lymphoproliferative Syndrome (Version 1.0)

Description

This panel has been compiled based on the following study:

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)

Panel Activity

1 reviewer

Ain Roesley (Victorian Clinical Genetics Services)

15 Entities

15 reviewed, 13 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 15 Entitiess
Green List (high evidence)	ADA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 Tags
Green List (high evidence)	CASP10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Green List (high evidence)	CTLA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Tags
Green List (high evidence)	FADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes FADD-related immunodeficiency MONDO:0013408 Tags
Green List (high evidence)	FAS	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune lymphoproliferative syndrome, type IA MIM#601859 Tags
Green List (high evidence)	FASLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune lymphoproliferative syndrome, type IB MIM#601859 Tags
Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphoproliferative syndrome 1 MIM#613011 Tags
Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes RAS-associated autoimmune leukoproliferative disorder MIM#614470 Tags
Green List (high evidence)	LRBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Tags
Green List (high evidence)	MAGT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853 Tags
Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes autoimmune lymphoproliferative syndrome type 4 MONDO:0013767 Tags
Green List (high evidence)	PRKCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune lymphoproliferative syndrome, type III MIM#615559 Tags
Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952 STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Tags
Amber List (moderate evidence)	CASP8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Amber List (moderate evidence)	RASGRP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 64 MIM#618534 Tags

Major version comments

2025-01-20 02:56 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

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