GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems

Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Cancel

Date	Panel	Item	Activity
Filter activities 14 actions
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.50	FGR	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two different autoinflammatory phenotypes reported with monoallelic FGR variants. 1. >10 unrelated cases with chronic recurrent multifocal osteomyelitis, of which two patients had missense variants, and functional evidence for these two variants and from mouse model available. 2. One large family with vasculitis and functional evidence available for the variant (although reduced penetrance as reported in the review below) Based on these evidence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are two different autoinflammatory phenotypes reported with monoallelic FGR variants. 1. >10 unrelated cases with chronic recurrent multifocal osteomyelitis, of which two patients had missense variants, and functional evidence for these two variants and from mouse model available. 2. One large family with vasculitis and functional evidence available for the variant (although reduced penetrance as reported in the review below) Based on this evidence, this gene can be promoted to green rating in the next GMS update.
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.50	FGR	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two different autoinflammatory phenotypes reported with monoallelic FGR variants. 1. >10 unrelated cases with chronic recurrent multifocal osteomyelitis, of which two patients had missense variants and functional evidence for these two variants and from mouse model available. 2. One large family with vasculitis and functional evidence available for the variant (although reduced penetrance as reported in the review below) Based on these evidence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are two different autoinflammatory phenotypes reported with monoallelic FGR variants. 1. >10 unrelated cases with chronic recurrent multifocal osteomyelitis, of which two patients had missense variants, and functional evidence for these two variants and from mouse model available. 2. One large family with vasculitis and functional evidence available for the variant (although reduced penetrance as reported in the review below) Based on these evidence, this gene can be promoted to green rating in the next GMS update.
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.50	FGR	Achchuthan Shanmugasundram Classified gene: FGR as Amber List (moderate evidence)
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.50	FGR	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two different autoinflammatory phenotypes reported with monoallelic FGR variants. 1. >10 unrelated cases with chronic recurrent multifocal osteomyelitis, of which two patients had missense variants and functional evidence for these two variants and from mouse model available. 2. One large family with vasculitis and functional evidence available for the variant (although reduced penetrance as reported in the review below) Based on these evidence, this gene can be promoted to green rating in the next GMS update.
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.50	FGR	Achchuthan Shanmugasundram Gene: fgr has been classified as Amber List (Moderate Evidence).
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.49	FGR	Achchuthan Shanmugasundram changed review comment from: PMID:31138708 (2019) reported whole-exome sequencing of 99 Chronic recurrent multifocal osteomyelitis (CRMO) patients including 88 trios and 11 dyads, of which 11 different rare exonic heterozygous variants in FGR gene were identified in 13 probands. These include two missense variants, p.Arg118Trp found in SH3 domain and and p.Pro525Ser variant found in C-terminal tail. Functional analysis showed p.Arg118Trp variant decreased kinase activity, while p.Pro525Ser showed increased kinase activity (gain-of-function). Studies on Ali18 mice carrying a gain‑of‑function missense mutation in the C‑terminal regulatory region of Fgr shiwed that it reduces its negative regulatory phosphorylation, and this aberrant Fgr activity is necessary and sufficient to drive the spontaneous sterile osteomyelitis and systemic low bone mineral density inflammatory phenotype. PMID:41920357 (2026) reported three unrelated kindreds with sarcoma (Src) family of non-receptor tyrosine kinase (SFK)-associated vasculitis, of which one large family of 13 affected members across four generations was identified with a novel missense variant in FGR (p.Tyr523His). All clinically affected individuals (10) were heterozygous, while four unaffected members did not carry the variant. Two self-reported healthy members were also heterozygous, suggesting AD inheritance with incomplete penetrance or variable expressivity, although these two carriers have not undergone investigations for subclinical disease. This gene has not yet been associated with relevant phenotypes either in OMIM or in ClinGen (last accessed 31 July 2026).; to: PMID:31138708 (2019) reported whole-exome sequencing of 99 Chronic recurrent multifocal osteomyelitis (CRMO) patients including 88 trios and 11 dyads, of which 11 different rare exonic heterozygous variants in FGR gene were identified in 13 probands. These include two missense variants, p.Arg118Trp found in SH3 domain and and p.Pro525Ser variant found in C-terminal tail. Functional analysis showed p.Arg118Trp variant decreased kinase activity, while p.Pro525Ser showed increased kinase activity (gain-of-function). Studies on Ali18 mice carrying a gain‑of‑function missense mutation in the C‑terminal regulatory region of Fgr shiwed that it reduces its negative regulatory phosphorylation, and this aberrant Fgr activity is necessary and sufficient to drive the spontaneous sterile osteomyelitis and systemic low bone mineral density inflammatory phenotype. PMID:41920357 (2026) reported three unrelated kindreds with sarcoma (Src) family of non-receptor tyrosine kinase (SFK)-associated vasculitis, of which one large family of 13 affected members across four generations was identified with a novel missense variant in FGR (p.Tyr523His). All clinically affected individuals (10) were heterozygous, while four unaffected members did not carry the variant. Two self-reported healthy members were also heterozygous, suggesting AD inheritance with incomplete penetrance or variable expressivity, although these two carriers have not undergone investigations for subclinical disease. Functional studies on p.Tyr523His variant showed ~50% reduced Fgr protein, enhanced STAT1/STAT5 signaling and increased CD11b/CD18 integrin expression. This gene has not yet been associated with relevant phenotypes either in OMIM or in ClinGen (last accessed 31 July 2026).
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.49	FGR	Achchuthan Shanmugasundram changed review comment from: PMID:31138708 (2019) reported whole-exome sequencing of 99 Chronic recurrent multifocal osteomyelitis (CRMO) patients including 88 trios and 11 dyads, of which 11 different rare exonic heterozygous variants in FGR gene were identified in 13 probands. These include two missense variants, p.Arg118Trp found in SH3 domain and and p.Pro525Ser variant found in C-terminal tail. Functional analysis showed p.Arg118Trp variant decreased kinase activity, while p.Pro525Ser showed increased kinase activity (gain-of-function). Studies on Ali18 mice carrying a gain‑of‑function missense mutation in the C‑terminal regulatory region of Fgr shiwed that it reduces its negative regulatory phosphorylation, and this aberrant Fgr activity is necessary and sufficient to drive the spontaneous sterile osteomyelitis and systemic low bone mineral density inflammatory phenotype. PMID:41920357 (2026) reported three unrelated kindreds with sarcoma (Src) family of non-receptor tyrosine kinase (SFK)-associated vasculitis, of which one large family of 13 affected members across four generations was identified with a novel missense variant in FGR (p.Tyr523His). All clinically affected individuals (10) were heterozygous, while four unaffected members did not carry the variant. Two self-reported healthy members were also heterozygous, suggesting AD inheritance with incomplete penetrance or variable expressivity, although these two carriers have not undergone investigations for subclinical disease. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:31138708 (2019) reported whole-exome sequencing of 99 Chronic recurrent multifocal osteomyelitis (CRMO) patients including 88 trios and 11 dyads, of which 11 different rare exonic heterozygous variants in FGR gene were identified in 13 probands. These include two missense variants, p.Arg118Trp found in SH3 domain and and p.Pro525Ser variant found in C-terminal tail. Functional analysis showed p.Arg118Trp variant decreased kinase activity, while p.Pro525Ser showed increased kinase activity (gain-of-function). Studies on Ali18 mice carrying a gain‑of‑function missense mutation in the C‑terminal regulatory region of Fgr shiwed that it reduces its negative regulatory phosphorylation, and this aberrant Fgr activity is necessary and sufficient to drive the spontaneous sterile osteomyelitis and systemic low bone mineral density inflammatory phenotype. PMID:41920357 (2026) reported three unrelated kindreds with sarcoma (Src) family of non-receptor tyrosine kinase (SFK)-associated vasculitis, of which one large family of 13 affected members across four generations was identified with a novel missense variant in FGR (p.Tyr523His). All clinically affected individuals (10) were heterozygous, while four unaffected members did not carry the variant. Two self-reported healthy members were also heterozygous, suggesting AD inheritance with incomplete penetrance or variable expressivity, although these two carriers have not undergone investigations for subclinical disease. This gene has not yet been associated with relevant phenotypes either in OMIM or in ClinGen (last accessed 31 July 2026).
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.49	FGR	Achchuthan Shanmugasundram Phenotypes for gene: FGR were changed from Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease to chronic recurrent multifocal osteomyelitis, MONDO:0009813; vasculitis, MONDO:0018882
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.48	FGR	Achchuthan Shanmugasundram edited their review of gene: FGR: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.48	FGR	Achchuthan Shanmugasundram Publications for gene: FGR were set to
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.47	FGR	Achchuthan Shanmugasundram Mode of inheritance for gene: FGR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.46	FGR	Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: FGR.
31 Jul 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v9.46	FGR	Achchuthan Shanmugasundram reviewed gene: FGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31138708, 41920357; Phenotypes: chronic recurrent multifocal osteomyelitis, MONDO:0009813, vasculitis, MONDO:0018882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Apr 2026	Primary immunodeficiency or monogenic inflammatory bowel disease v8.99	FGR	Boaz Palterer gene: FGR was added gene: FGR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FGR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGR were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease Penetrance for gene: FGR were set to unknown Mode of pathogenicity for gene: FGR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FGR was set to RED Added comment: Price-Kuehne et al. described very large kindred with autosomal dominant Gain of function due to loss of regulatory tyrosine in FGR https://link.springer.com/article/10.1007/s10875-026-01998-z Sources: Literature