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Embryonal tumour of possible germline origin v1.2 Ida Ertmanska List of related panels changed from R456 to R456; GT1441; TP170
Embryonal tumour of possible germline origin v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2026-05-06
Embryonal tumour of possible germline origin v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Embryonal tumour of possible germline origin v0.12 Achchuthan Shanmugasundram Panel status changed from internal to public
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Embryonal tumour of possible germline origin v0.11 Achchuthan Shanmugasundram Panel status changed from public to internal
Embryonal tumour of possible germline origin v0.10 Achchuthan Shanmugasundram Panel status changed from internal to public
Embryonal tumour of possible germline origin v0.9 Arina Puzriakova Panel status changed from public to internal
Embryonal tumour of possible germline origin v0.8 CTR9 Ida Ertmanska Tag gene-checked tag was added to gene: CTR9.
Embryonal tumour of possible germline origin v0.8 Arina Puzriakova Panel status changed from internal to public
Embryonal tumour of possible germline origin v0.7 ISCA-37401-Loss Achchuthan Shanmugasundram commented on Region: ISCA-37401-Loss: This region has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 WT1 Achchuthan Shanmugasundram commented on gene: WT1: WT1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 TRIP13 Achchuthan Shanmugasundram commented on gene: TRIP13: TRIP13 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 TRIM37 Achchuthan Shanmugasundram commented on gene: TRIM37: TRIM37 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 TRIM28 Achchuthan Shanmugasundram commented on gene: TRIM28: TRIM28 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 TP53 Achchuthan Shanmugasundram commented on gene: TP53: TP53 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 SUFU Achchuthan Shanmugasundram commented on gene: SUFU: SUFU has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 SOS1 Achchuthan Shanmugasundram commented on gene: SOS1: SOS1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 SMARCB1 Achchuthan Shanmugasundram commented on gene: SMARCB1: SMARCB1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 SMARCA4 Achchuthan Shanmugasundram commented on gene: SMARCA4: SMARCA4 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 REST Achchuthan Shanmugasundram commented on gene: REST: REST has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 PTPN11 Achchuthan Shanmugasundram commented on gene: PTPN11: PTPN11 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 PTCH1 Achchuthan Shanmugasundram commented on gene: PTCH1: PTCH1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 PHOX2B Achchuthan Shanmugasundram commented on gene: PHOX2B: PHOX2B has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 KRAS Achchuthan Shanmugasundram commented on gene: KRAS: KRAS has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 HRAS Achchuthan Shanmugasundram commented on gene: HRAS: HRAS has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 GPR161 Achchuthan Shanmugasundram commented on gene: GPR161: GPR161 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 GPC3 Achchuthan Shanmugasundram commented on gene: GPC3: GPC3 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 EZH2 Achchuthan Shanmugasundram commented on gene: EZH2: EZH2 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 ELP1 Achchuthan Shanmugasundram commented on gene: ELP1: ELP1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 DIS3L2 Achchuthan Shanmugasundram commented on gene: DIS3L2: DIS3L2 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 DICER1 Achchuthan Shanmugasundram commented on gene: DICER1: DICER1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 CTR9 Achchuthan Shanmugasundram commented on gene: CTR9: CTR9 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 CDKN1C Achchuthan Shanmugasundram commented on gene: CDKN1C: CDKN1C has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 CBL Achchuthan Shanmugasundram commented on gene: CBL: CBL has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 BUB1B Achchuthan Shanmugasundram commented on gene: BUB1B: BUB1B has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.7 ALK Achchuthan Shanmugasundram commented on gene: ALK: ALK has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Embryonal tumour of possible germline origin v0.5 ISCA-37401-Loss Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072; WAGR syndrome, MONDO:0008681
Embryonal tumour of possible germline origin v0.4 ISCA-37401-Loss Achchuthan Shanmugasundram edited their review of Region: ISCA-37401-Loss: Changed rating: GREEN; Changed phenotypes to: Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072, WAGR syndrome, MONDO:0008681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.4 ISCA-37401-Loss Achchuthan Shanmugasundram Added comment: Comment on phenotypes: The OMIM record (MIM #194072) was last accessed on 30 December 2025.
Embryonal tumour of possible germline origin v0.4 ISCA-37401-Loss Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072 to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
Embryonal tumour of possible germline origin v0.3 ISCA-37401-Loss Achchuthan Shanmugasundram Entity copied from Childhood solid tumours v5.8
Embryonal tumour of possible germline origin v0.3 ISCA-37401-Loss Achchuthan Shanmugasundram Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Embryonal tumour of possible germline origin. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Embryonal tumour of possible germline origin v0.2 WT1 Achchuthan Shanmugasundram reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frasier syndrome, OMIM:136680, Denys-Drash syndrome, OMIM:194080, Wilms tumor 1, MONDO:0008679, Frasier syndrome, MONDO:0007635, Denys-Drash syndrome, MONDO:0008682, Wilms tumor, type 1, OMIM:194070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 TRIP13 Achchuthan Shanmugasundram reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: mosaic variegated aneuploidy syndrome 3, MONDO:0054736, Mosaic variegated aneuploidy syndrome 3, OMIM:617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Embryonal tumour of possible germline origin v0.2 TRIM37 Achchuthan Shanmugasundram reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: mulibrey nanism, MONDO:0009664, Mulibrey nanism, OMIM:253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Embryonal tumour of possible germline origin v0.2 TRIM28 Achchuthan Shanmugasundram reviewed gene: TRIM28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilms tumor 7, MONDO:0979876, Wilms tumor 7, OMIM:621332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Embryonal tumour of possible germline origin v0.2 TP53 Achchuthan Shanmugasundram reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Basal cell carcinoma 7}, OMIM:614740, Li-Fraumeni syndrome, MONDO:0018875, adrenocortical carcinoma, hereditary, MONDO:0008734, nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775, {Glioma susceptibility 1}, OMIM:137800, {Colorectal cancer}, OMIM:114500, {Adrenocortical carcinoma, pediatric}, OMIM:202300, choroid plexus papilloma, MONDO:0009837, Li-Fraumeni syndrome, OMIM:151623, {Choroid plexus papilloma}, OMIM:260500, basal cell carcinoma, susceptibility to, 7, MONDO:0013876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 SUFU Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: basal cell nevus syndrome 2, MONDO:0958189, {Medulloblastoma}, OMIM:155255, {Meningioma, familial, susceptibility to}, OMIM:607174, Basal cell nevus syndrome 2, OMIM:620343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 SOS1 Achchuthan Shanmugasundram reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome 4, MONDO:0012547, Noonan syndrome 4, OMIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 SMARCB1 Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SMARCB1-related schwannomatosis, MONDO:0024517, {Schwannomatosis-1, susceptibility to}, OMIM:162091, rhabdoid tumor predisposition syndrome 1, MONDO:0012252, {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 SMARCA4 Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325, Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 REST Achchuthan Shanmugasundram reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilms tumor 6, MONDO:0014779, {Wilms tumor 6, susceptibility to}, OMIM:616806; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Embryonal tumour of possible germline origin v0.2 PTPN11 Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome 1, MONDO:0008104, Noonan syndrome 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 PTCH1 Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Basal cell nevus syndrome 1, OMIM:109400, basal cell nevus syndrome 1, MONDO:0958174; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 PHOX2B Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: neuroblastoma, susceptibility to, 2, MONDO:0700041, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026, {Neuroblastoma, susceptibility to, 2}, OMIM:613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 KRAS Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RAS-associated autoimmune leukoproliferative disorder, OMIM:614470, cardiofaciocutaneous syndrome 2, MONDO:0014112, Cardiofaciocutaneous syndrome 2, OMIM:615278, Noonan syndrome 3, OMIM:609942, Noonan syndrome 3, MONDO:0012371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 HRAS Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello syndrome, MONDO:0009026, Costello syndrome, OMIM:218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 GPR161 Achchuthan Shanmugasundram reviewed gene: GPR161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Medulloblastoma predisposition syndrome}, OMIM:155255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 GPC3 Achchuthan Shanmugasundram reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602, Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Embryonal tumour of possible germline origin v0.2 EZH2 Achchuthan Shanmugasundram reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Weaver syndrome, OMIM:277590, Weaver syndrome, MONDO:0010193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 ELP1 Achchuthan Shanmugasundram reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Medulloblastoma}, OMIM:155255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 DIS3L2 Achchuthan Shanmugasundram reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perlman syndrome, MONDO:0009965, Perlman syndrome, OMIM:267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Embryonal tumour of possible germline origin v0.2 DICER1 Achchuthan Shanmugasundram reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800, rhabdomyosarcoma, embryonal, 2, MONDO:0859046, DICER1-related tumor predisposition, MONDO:0100216, Rhabdomyosarcoma, embryonal, 2, OMIM:180295, Pleuropulmonary blastoma, OMIM:601200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Embryonal tumour of possible germline origin v0.2 CTR9 Achchuthan Shanmugasundram reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilms tumor, MONDO:0006058; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Embryonal tumour of possible germline origin v0.2 CDKN1C Achchuthan Shanmugasundram reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MONDO:0007534, Beckwith-Wiedemann syndrome, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Embryonal tumour of possible germline origin v0.2 CBL Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563, ?Juvenile myelomonocytic leukemia, OMIM:607785, CBL-related disorder, MONDO:0013308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.2 BUB1B Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: mosaic variegated aneuploidy syndrome 1, MONDO:0009759, Mosaic variegated aneuploidy syndrome 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Embryonal tumour of possible germline origin v0.2 ALK Achchuthan Shanmugasundram reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: neuroblastoma, susceptibility to, 3, MONDO:0013083, {Neuroblastoma, susceptibility to, 3}, OMIM:613014; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Embryonal tumour of possible germline origin v0.1 WT1 Achchuthan Shanmugasundram gene: WT1 was added
gene: WT1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to Frasier syndrome, OMIM:136680; Wilms tumor, type 1, OMIM:194070; Wilms tumor 1, MONDO:0008679; Frasier syndrome, MONDO:0007635; Denys-Drash syndrome, OMIM:194080; Denys-Drash syndrome, MONDO:0008682
Embryonal tumour of possible germline origin v0.1 TRIP13 Achchuthan Shanmugasundram gene: TRIP13 was added
gene: TRIP13 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3, OMIM:617598; mosaic variegated aneuploidy syndrome 3, MONDO:0054736
Embryonal tumour of possible germline origin v0.1 TRIM37 Achchuthan Shanmugasundram gene: TRIM37 was added
gene: TRIM37 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to mulibrey nanism, MONDO:0009664; Mulibrey nanism, OMIM:253250
Embryonal tumour of possible germline origin v0.1 TRIM28 Achchuthan Shanmugasundram gene: TRIM28 was added
gene: TRIM28 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRIM28 were set to Wilms tumor 7, MONDO:0979876; Wilms tumor 7, OMIM:621332
Embryonal tumour of possible germline origin v0.1 TP53 Achchuthan Shanmugasundram gene: TP53 was added
gene: TP53 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP53 were set to {Colorectal cancer}, OMIM:114500; {Adrenocortical carcinoma, pediatric}, OMIM:202300; choroid plexus papilloma, MONDO:0009837; {Choroid plexus papilloma}, OMIM:260500; Li-Fraumeni syndrome, MONDO:0018875; nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775; {Basal cell carcinoma 7}, OMIM:614740; Li-Fraumeni syndrome, OMIM:151623; basal cell carcinoma, susceptibility to, 7, MONDO:0013876; {Glioma susceptibility 1}, OMIM:137800; adrenocortical carcinoma, hereditary, MONDO:0008734
Embryonal tumour of possible germline origin v0.1 SUFU Achchuthan Shanmugasundram gene: SUFU was added
gene: SUFU was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SUFU were set to {Medulloblastoma}, OMIM:155255; Basal cell nevus syndrome 2, OMIM:620343; {Meningioma, familial, susceptibility to}, OMIM:607174; basal cell nevus syndrome 2, MONDO:0958189
Embryonal tumour of possible germline origin v0.1 SOS1 Achchuthan Shanmugasundram gene: SOS1 was added
gene: SOS1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS1 were set to Noonan syndrome 4, OMIM:610733; Noonan syndrome 4, MONDO:0012547
Embryonal tumour of possible germline origin v0.1 SMARCB1 Achchuthan Shanmugasundram gene: SMARCB1 was added
gene: SMARCB1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCB1 were set to SMARCB1-related schwannomatosis, MONDO:0024517; rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
Embryonal tumour of possible germline origin v0.1 SMARCA4 Achchuthan Shanmugasundram gene: SMARCA4 was added
gene: SMARCA4 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
Embryonal tumour of possible germline origin v0.1 REST Achchuthan Shanmugasundram gene: REST was added
gene: REST was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REST were set to Wilms tumor 6, MONDO:0014779; {Wilms tumor 6, susceptibility to}, OMIM:616806
Embryonal tumour of possible germline origin v0.1 PTPN11 Achchuthan Shanmugasundram gene: PTPN11 was added
gene: PTPN11 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MONDO:0008104; Noonan syndrome 1, OMIM:163950
Embryonal tumour of possible germline origin v0.1 PTCH1 Achchuthan Shanmugasundram gene: PTCH1 was added
gene: PTCH1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to Basal cell nevus syndrome 1, OMIM:109400; basal cell nevus syndrome 1, MONDO:0958174
Embryonal tumour of possible germline origin v0.1 PHOX2B Achchuthan Shanmugasundram gene: PHOX2B was added
gene: PHOX2B was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHOX2B were set to central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026; neuroblastoma, susceptibility to, 2, MONDO:0700041; {Neuroblastoma, susceptibility to, 2}, OMIM:613013; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880
Embryonal tumour of possible germline origin v0.1 KRAS Achchuthan Shanmugasundram gene: KRAS was added
gene: KRAS was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to Noonan syndrome 3, MONDO:0012371; cardiofaciocutaneous syndrome 2, MONDO:0014112; Cardiofaciocutaneous syndrome 2, OMIM:615278; RAS-associated autoimmune leukoproliferative disorder, OMIM:614470; Noonan syndrome 3, OMIM:609942
Embryonal tumour of possible germline origin v0.1 HRAS Achchuthan Shanmugasundram gene: HRAS was added
gene: HRAS was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to Costello syndrome, MONDO:0009026; Costello syndrome, OMIM:218040
Embryonal tumour of possible germline origin v0.1 GPR161 Achchuthan Shanmugasundram gene: GPR161 was added
gene: GPR161 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GPR161 were set to {Medulloblastoma predisposition syndrome}, OMIM:155255
Embryonal tumour of possible germline origin v0.1 GPC3 Achchuthan Shanmugasundram gene: GPC3 was added
gene: GPC3 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602; Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870
Embryonal tumour of possible germline origin v0.1 EZH2 Achchuthan Shanmugasundram gene: EZH2 was added
gene: EZH2 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to Weaver syndrome, OMIM:277590; Weaver syndrome, MONDO:0010193
Embryonal tumour of possible germline origin v0.1 ELP1 Achchuthan Shanmugasundram gene: ELP1 was added
gene: ELP1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELP1 were set to {Medulloblastoma}, OMIM:155255
Embryonal tumour of possible germline origin v0.1 DIS3L2 Achchuthan Shanmugasundram gene: DIS3L2 was added
gene: DIS3L2 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MONDO:0009965; Perlman syndrome, OMIM:267000
Embryonal tumour of possible germline origin v0.1 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DICER1 were set to Rhabdomyosarcoma, embryonal, 2, OMIM:180295; DICER1-related tumor predisposition, MONDO:0100216; rhabdomyosarcoma, embryonal, 2, MONDO:0859046; Pleuropulmonary blastoma, OMIM:601200; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
Embryonal tumour of possible germline origin v0.1 CTR9 Achchuthan Shanmugasundram gene: CTR9 was added
gene: CTR9 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CTR9 were set to Wilms tumor, MONDO:0006058
Embryonal tumour of possible germline origin v0.1 CDKN1C Achchuthan Shanmugasundram gene: CDKN1C was added
gene: CDKN1C was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MONDO:0007534; Beckwith-Wiedemann syndrome, OMIM:130650
Embryonal tumour of possible germline origin v0.1 CBL Achchuthan Shanmugasundram gene: CBL was added
gene: CBL was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CBL were set to CBL-related disorder, MONDO:0013308; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563; ?Juvenile myelomonocytic leukemia, OMIM:607785
Embryonal tumour of possible germline origin v0.1 BUB1B Achchuthan Shanmugasundram gene: BUB1B was added
gene: BUB1B was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, OMIM:257300; mosaic variegated aneuploidy syndrome 1, MONDO:0009759
Embryonal tumour of possible germline origin v0.1 ALK Achchuthan Shanmugasundram gene: ALK was added
gene: ALK was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALK were set to {Neuroblastoma, susceptibility to, 3}, OMIM:613014; neuroblastoma, susceptibility to, 3, MONDO:0013083
Embryonal tumour of possible germline origin v0.0 Achchuthan Shanmugasundram Added Panel Embryonal tumour of possible germline origin
Set list of related panels to R456
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease