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Childhood interstitial lung disease v0.9 Achchuthan Shanmugasundram Panel status changed from internal to public
Childhood interstitial lung disease v0.8 Arina Puzriakova Panel status changed from public to internal
Childhood interstitial lung disease v0.7 NAF1 Ida Ertmanska Tag gene-checked was removed from gene: NAF1.
Childhood interstitial lung disease v0.7 Arina Puzriakova Panel status changed from internal to public
Childhood interstitial lung disease v0.6 RAB5B Achchuthan Shanmugasundram Classified gene: RAB5B as Amber List (moderate evidence)
Childhood interstitial lung disease v0.6 RAB5B Achchuthan Shanmugasundram Added comment: Comment on list classification: The rating of this gene will remain amber on this panel as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.6 RAB5B Achchuthan Shanmugasundram Gene: rab5b has been classified as Amber List (Moderate Evidence).
Childhood interstitial lung disease v0.5 MARS Achchuthan Shanmugasundram changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1; to: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1.
Childhood interstitial lung disease v0.5 TMEM173 Achchuthan Shanmugasundram commented on gene: TMEM173: TMEM173 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 TINF2 Achchuthan Shanmugasundram commented on gene: TINF2: TINF2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 TERT Achchuthan Shanmugasundram commented on gene: TERT: TERT has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 TERC Achchuthan Shanmugasundram commented on gene: TERC: TERC has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 TBX4 Achchuthan Shanmugasundram commented on gene: TBX4: TBX4 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 STAT5B Achchuthan Shanmugasundram commented on gene: STAT5B: STAT5B has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 STAT1 Achchuthan Shanmugasundram commented on gene: STAT1: STAT1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 SLC7A7 Achchuthan Shanmugasundram commented on gene: SLC7A7: SLC7A7 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 SLC34A2 Achchuthan Shanmugasundram commented on gene: SLC34A2: SLC34A2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 SFTPC Achchuthan Shanmugasundram commented on gene: SFTPC: SFTPC has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 SFTPB Achchuthan Shanmugasundram commented on gene: SFTPB: SFTPB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 SFTPA2 Achchuthan Shanmugasundram commented on gene: SFTPA2: SFTPA2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 SFTPA1 Achchuthan Shanmugasundram commented on gene: SFTPA1: SFTPA1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 RTEL1 Achchuthan Shanmugasundram commented on gene: RTEL1: RTEL1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 PSMB9 Achchuthan Shanmugasundram commented on gene: PSMB9: PSMB9 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 PSMB8 Achchuthan Shanmugasundram commented on gene: PSMB8: PSMB8 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 PSMB4 Achchuthan Shanmugasundram commented on gene: PSMB4: PSMB4 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 PARN Achchuthan Shanmugasundram commented on gene: PARN: PARN has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 OAS1 Achchuthan Shanmugasundram commented on gene: OAS1: OAS1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 NKX2-1 Achchuthan Shanmugasundram commented on gene: NKX2-1: NKX2-1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 NAF1 Achchuthan Shanmugasundram commented on gene: NAF1: NAF1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 MARS Achchuthan Shanmugasundram commented on gene: MARS: MARS has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 LRBA Achchuthan Shanmugasundram commented on gene: LRBA: LRBA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 ITGA3 Achchuthan Shanmugasundram commented on gene: ITGA3: ITGA3 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 GATA2 Achchuthan Shanmugasundram commented on gene: GATA2: GATA2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 FOXF1 Achchuthan Shanmugasundram commented on gene: FOXF1: FOXF1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 FLNA Achchuthan Shanmugasundram commented on gene: FLNA: FLNA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 FARSB Achchuthan Shanmugasundram commented on gene: FARSB: FARSB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 FARSA Achchuthan Shanmugasundram commented on gene: FARSA: FARSA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 CSF2RB Achchuthan Shanmugasundram commented on gene: CSF2RB: CSF2RB has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 CSF2RA Achchuthan Shanmugasundram commented on gene: CSF2RA: CSF2RA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 COPA Achchuthan Shanmugasundram commented on gene: COPA: COPA has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 BMPR2 Achchuthan Shanmugasundram commented on gene: BMPR2: BMPR2 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.5 ABCA3 Achchuthan Shanmugasundram commented on gene: ABCA3: ABCA3 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.4 RAB5B Achchuthan Shanmugasundram Classified gene: RAB5B as Amber List (moderate evidence)
Childhood interstitial lung disease v0.4 RAB5B Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is only one human case and functional evidence from C. elegans and proband's lung biopsy reported so far, this gene should be rated amber with current evidence.
Childhood interstitial lung disease v0.4 RAB5B Achchuthan Shanmugasundram Gene: rab5b has been classified as Amber List (Moderate Evidence).
Childhood interstitial lung disease v0.3 RAB5B Achchuthan Shanmugasundram changed review comment from: PMID:35121658 reported a female child of Pakistani descent presenting with interstitial lung disease (ILD) suggestive of a surfactant dysfunction disorder, dysmorphic features, and global developmental delay. A de novo heterozygous variant in RAB5B gene (c.406G>C/ p.Asp136His) was identified via trio exome sequencing and confirmed by Sanger sequencing.

There is functional evidence available from Caenorhabditis elegans, where knocking the proband variant into the conserved position (Asp135) of the ortholog showed that the variant is damaging, producing a strong dominant negative gene product. Evidence is also available from immunostaining studies of the proband's lung biopsy, indicating dominant negative-acting RAB5B Asp136His and EE dysfunction cause a defect in processing/trafficking to produce mature SP-B and SP-C, resulting in interstitial lung disease.

This gene has not yet been associated with any phenotypes either in ClinGen, Gene2Phenotype or PanelApp Australia; to: PMID:35121658 reported a female child of Pakistani descent presenting with interstitial lung disease (ILD) suggestive of a surfactant dysfunction disorder, dysmorphic features, and global developmental delay. A de novo heterozygous variant in RAB5B gene (c.406G>C/ p.Asp136His) was identified via trio exome sequencing and confirmed by Sanger sequencing.

There is functional evidence available from Caenorhabditis elegans, where knocking the proband variant into the conserved position (Asp135) of the ortholog showed that the variant is damaging, producing a strong dominant negative gene product. Evidence is also available from immunostaining studies of the proband's lung biopsy, indicating dominant negative-acting RAB5B Asp136His and EE dysfunction cause a defect in processing/trafficking to produce mature SP-B and SP-C, resulting in interstitial lung disease.

This gene has not yet been associated with any phenotypes either in ClinGen, Gene2Phenotype or PanelApp Australia.
Childhood interstitial lung disease v0.3 RAB5B Achchuthan Shanmugasundram edited their review of gene: RAB5B: Added comment: PMID:35121658 reported a female child of Pakistani descent presenting with interstitial lung disease (ILD) suggestive of a surfactant dysfunction disorder, dysmorphic features, and global developmental delay. A de novo heterozygous variant in RAB5B gene (c.406G>C/ p.Asp136His) was identified via trio exome sequencing and confirmed by Sanger sequencing.

There is functional evidence available from Caenorhabditis elegans, where knocking the proband variant into the conserved position (Asp135) of the ortholog showed that the variant is damaging, producing a strong dominant negative gene product. Evidence is also available from immunostaining studies of the proband's lung biopsy, indicating dominant negative-acting RAB5B Asp136His and EE dysfunction cause a defect in processing/trafficking to produce mature SP-B and SP-C, resulting in interstitial lung disease.

This gene has not yet been associated with any phenotypes either in ClinGen, Gene2Phenotype or PanelApp Australia; Changed rating: AMBER
Childhood interstitial lung disease v0.2 TMEM173 Achchuthan Shanmugasundram commented on gene: TMEM173: The 'new-gene-name' tag has been added as the official HGNC gene symbol for TMEM173 is STING1.
Childhood interstitial lung disease v0.2 TMEM173 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: TMEM173.
Childhood interstitial lung disease v0.2 TERC Achchuthan Shanmugasundram Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Childhood interstitial lung disease v0.2 NAF1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NAF1.
Childhood interstitial lung disease v0.2 MARS Achchuthan Shanmugasundram commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Childhood interstitial lung disease v0.2 MARS Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: MARS.
Childhood interstitial lung disease v0.2 CSF2RA Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Childhood interstitial lung disease v0.2 FARSB Achchuthan Shanmugasundram reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rajab interstitial lung disease with brain calcifications 1, OMIM:613658, Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 FARSA Achchuthan Shanmugasundram reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013, Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 LRBA Achchuthan Shanmugasundram reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: combined immunodeficiency due to LRBA deficiency, MONDO:0013863, Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 SLC7A7 Achchuthan Shanmugasundram reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: lysinuric protein intolerance, MONDO:0009109, Lysinuric protein intolerance, OMIM:222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 GATA2 Achchuthan Shanmugasundram reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 21, OMIM:614172, monocytopenia with susceptibility to infections, MONDO:0013607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 RAB5B Achchuthan Shanmugasundram reviewed gene: RAB5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35121658; Phenotypes: interstitial lung disease, MONDO:0015925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 TBX4 Achchuthan Shanmugasundram reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360, congenital alveolar dysplasia due to TBX4, MONDO:0100097, autosomal recessive amelia, MONDO:0011054; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 PSMB9 Achchuthan Shanmugasundram reviewed gene: PSMB9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: proteasome-associated autoinflammatory syndrome 6, MONDO:0968983, Proteasome-associated autoinflammatory syndrome 6, OMIM:620796; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 OAS1 Achchuthan Shanmugasundram reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840, Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 NKX2-1 Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978, NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 CSF2RB Achchuthan Shanmugasundram reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712, Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 BMPR2 Achchuthan Shanmugasundram reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600, Pulmonary venoocclusive disease 1, OMIM:265450, pulmonary hypertension, primary, 1, MONDO:0024533, pulmonary venoocclusive disease 1, MONDO:0020713, Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 PSMB8 Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: proteasome-associated autoinflammatory syndrome 1, MONDO:0054698, Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 RTEL1 Achchuthan Shanmugasundram reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 ABCA3 Achchuthan Shanmugasundram reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921, interstitial lung disease due to ABCA3 deficiency, MONDO:0012582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 CSF2RA Achchuthan Shanmugasundram reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770, surfactant metabolism dysfunction, pulmonary, 4, MONDO:0010424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 SLC34A2 Achchuthan Shanmugasundram reviewed gene: SLC34A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary alveolar microlithiasis, MONDO:0009928, Pulmonary alveolar microlithiasis, OMIM:265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 PSMB4 Achchuthan Shanmugasundram reviewed gene: PSMB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: proteasome-associated autoinflammatory syndrome 3, MONDO:0054699, ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 MARS Achchuthan Shanmugasundram reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Interstitial lung and liver disease, OMIM:615486, severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 SFTPC Achchuthan Shanmugasundram reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465, SFTPC-related interstitial lung disease, MONDO:0018603, Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 ITGA3 Achchuthan Shanmugasundram reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, OMIM:614748, epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MONDO:0013881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 TMEM173 Achchuthan Shanmugasundram reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: STING-associated vasculopathy, infantile-onset, OMIM:615934, STING-associated vasculopathy with onset in infancy, MONDO:0014405; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 COPA Achchuthan Shanmugasundram reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414, autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 NAF1 Achchuthan Shanmugasundram reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 SFTPB Achchuthan Shanmugasundram reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929, Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 FOXF1 Achchuthan Shanmugasundram reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380, alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 STAT5B Achchuthan Shanmugasundram reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 TINF2 Achchuthan Shanmugasundram reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, OMIM:613990; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 TERC Achchuthan Shanmugasundram reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879, Dyskeratosis congenita, autosomal dominant 1, OMIM:127550, dyskeratosis congenita, autosomal dominant 1, MONDO:0007485, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 SFTPA2 Achchuthan Shanmugasundram reviewed gene: SFTPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Interstitial lung disease 2, OMIM:178500, interstitial lung disease 2, MONDO:0800497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 FLNA Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: heterotopia, periventricular, X-linked dominant, MONDO:0010233, Heterotopia, periventricular, 1, OMIM:300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood interstitial lung disease v0.2 STAT1 Achchuthan Shanmugasundram reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 PARN Achchuthan Shanmugasundram reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4, OMIM:616371, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4, MONDO:0014612; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.2 TERT Achchuthan Shanmugasundram reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 4, OMIM:613989, dyskeratosis congenita, autosomal dominant 2, MONDO:0013521, Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.2 SFTPA1 Achchuthan Shanmugasundram reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Interstitial lung disease 1, OMIM:619611, interstitial lung disease 1, MONDO:0030608; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Childhood interstitial lung disease v0.1 FARSB Achchuthan Shanmugasundram gene: FARSB was added
gene: FARSB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARSB were set to Rajab interstitial lung disease with brain calcifications 1, OMIM:613658; Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215
Childhood interstitial lung disease v0.1 FARSA Achchuthan Shanmugasundram gene: FARSA was added
gene: FARSA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARSA were set to ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013; Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220
Childhood interstitial lung disease v0.1 LRBA Achchuthan Shanmugasundram gene: LRBA was added
gene: LRBA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; combined immunodeficiency due to LRBA deficiency, MONDO:0013863
Childhood interstitial lung disease v0.1 SLC7A7 Achchuthan Shanmugasundram gene: SLC7A7 was added
gene: SLC7A7 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, OMIM:222700; lysinuric protein intolerance, MONDO:0009109
Childhood interstitial lung disease v0.1 GATA2 Achchuthan Shanmugasundram gene: GATA2 was added
gene: GATA2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA2 were set to Immunodeficiency 21, OMIM:614172; monocytopenia with susceptibility to infections, MONDO:0013607
Childhood interstitial lung disease v0.1 RAB5B Achchuthan Shanmugasundram gene: RAB5B was added
gene: RAB5B was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RAB5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5B were set to 35121658
Phenotypes for gene: RAB5B were set to interstitial lung disease, MONDO:0015925
Childhood interstitial lung disease v0.1 TBX4 Achchuthan Shanmugasundram gene: TBX4 was added
gene: TBX4 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TBX4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: TBX4 were set to autosomal recessive amelia, MONDO:0011054; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360; congenital alveolar dysplasia due to TBX4, MONDO:0100097
Childhood interstitial lung disease v0.1 PSMB9 Achchuthan Shanmugasundram gene: PSMB9 was added
gene: PSMB9 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PSMB9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PSMB9 were set to proteasome-associated autoinflammatory syndrome 6, MONDO:0968983; Proteasome-associated autoinflammatory syndrome 6, OMIM:620796
Childhood interstitial lung disease v0.1 OAS1 Achchuthan Shanmugasundram gene: OAS1 was added
gene: OAS1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OAS1 were set to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042; pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840
Childhood interstitial lung disease v0.1 NKX2-1 Achchuthan Shanmugasundram gene: NKX2-1 was added
gene: NKX2-1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520
Childhood interstitial lung disease v0.1 CSF2RB Achchuthan Shanmugasundram gene: CSF2RB was added
gene: CSF2RB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370; surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712
Childhood interstitial lung disease v0.1 BMPR2 Achchuthan Shanmugasundram gene: BMPR2 was added
gene: BMPR2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600; pulmonary hypertension, primary, 1, MONDO:0024533; Pulmonary venoocclusive disease 1, OMIM:265450; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600; pulmonary venoocclusive disease 1, MONDO:0020713
Childhood interstitial lung disease v0.1 PSMB8 Achchuthan Shanmugasundram gene: PSMB8 was added
gene: PSMB8 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to proteasome-associated autoinflammatory syndrome 1, MONDO:0054698; Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Childhood interstitial lung disease v0.1 RTEL1 Achchuthan Shanmugasundram gene: RTEL1 was added
gene: RTEL1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613
Childhood interstitial lung disease v0.1 ABCA3 Achchuthan Shanmugasundram gene: ABCA3 was added
gene: ABCA3 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to interstitial lung disease due to ABCA3 deficiency, MONDO:0012582; Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921
Childhood interstitial lung disease v0.1 CSF2RA Achchuthan Shanmugasundram gene: CSF2RA was added
gene: CSF2RA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770; surfactant metabolism dysfunction, pulmonary, 4, MONDO:0010424
Childhood interstitial lung disease v0.1 SLC34A2 Achchuthan Shanmugasundram gene: SLC34A2 was added
gene: SLC34A2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis, OMIM:265100; pulmonary alveolar microlithiasis, MONDO:0009928
Childhood interstitial lung disease v0.1 PSMB4 Achchuthan Shanmugasundram gene: PSMB4 was added
gene: PSMB4 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB4 were set to proteasome-associated autoinflammatory syndrome 3, MONDO:0054699; ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Childhood interstitial lung disease v0.1 MARS Achchuthan Shanmugasundram gene: MARS was added
gene: MARS was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS were set to severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206; Interstitial lung and liver disease, OMIM:615486
Childhood interstitial lung disease v0.1 SFTPC Achchuthan Shanmugasundram gene: SFTPC was added
gene: SFTPC was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913; SFTPC-related interstitial lung disease, MONDO:0018603; surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465
Childhood interstitial lung disease v0.1 ITGA3 Achchuthan Shanmugasundram gene: ITGA3 was added
gene: ITGA3 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MONDO:0013881; Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, OMIM:614748
Childhood interstitial lung disease v0.1 TMEM173 Achchuthan Shanmugasundram gene: TMEM173 was added
gene: TMEM173 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy with onset in infancy, MONDO:0014405; STING-associated vasculopathy, infantile-onset, OMIM:615934
Childhood interstitial lung disease v0.1 COPA Achchuthan Shanmugasundram gene: COPA was added
gene: COPA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COPA were set to autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629; {Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414
Childhood interstitial lung disease v0.1 NAF1 Achchuthan Shanmugasundram gene: NAF1 was added
gene: NAF1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAF1 were set to pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365
Childhood interstitial lung disease v0.1 SFTPB Achchuthan Shanmugasundram gene: SFTPB was added
gene: SFTPB was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120; surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929
Childhood interstitial lung disease v0.1 FOXF1 Achchuthan Shanmugasundram gene: FOXF1 was added
gene: FOXF1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934
Childhood interstitial lung disease v0.1 STAT5B Achchuthan Shanmugasundram gene: STAT5B was added
gene: STAT5B was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211
Childhood interstitial lung disease v0.1 TINF2 Achchuthan Shanmugasundram gene: TINF2 was added
gene: TINF2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, OMIM:613990
Childhood interstitial lung disease v0.1 TERC Achchuthan Shanmugasundram gene: TERC was added
gene: TERC was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TERC were set to dyskeratosis congenita, autosomal dominant 1, MONDO:0007485; Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743
Childhood interstitial lung disease v0.1 SFTPA2 Achchuthan Shanmugasundram gene: SFTPA2 was added
gene: SFTPA2 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SFTPA2 were set to interstitial lung disease 2, MONDO:0800497; Interstitial lung disease 2, OMIM:178500
Childhood interstitial lung disease v0.1 FLNA Achchuthan Shanmugasundram gene: FLNA was added
gene: FLNA was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to heterotopia, periventricular, X-linked dominant, MONDO:0010233; Heterotopia, periventricular, 1, OMIM:300049
Childhood interstitial lung disease v0.1 STAT1 Achchuthan Shanmugasundram gene: STAT1 was added
gene: STAT1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STAT1 were set to Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162; autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599
Childhood interstitial lung disease v0.1 PARN Achchuthan Shanmugasundram gene: PARN was added
gene: PARN was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PARN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PARN were set to pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4, MONDO:0014612; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4, OMIM:616371
Childhood interstitial lung disease v0.1 TERT Achchuthan Shanmugasundram gene: TERT was added
gene: TERT was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; dyskeratosis congenita, autosomal dominant 2, MONDO:0013521; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878
Childhood interstitial lung disease v0.1 SFTPA1 Achchuthan Shanmugasundram gene: SFTPA1 was added
gene: SFTPA1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SFTPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SFTPA1 were set to Interstitial lung disease 1, OMIM:619611; interstitial lung disease 1, MONDO:0030608
Childhood interstitial lung disease v0.0 Achchuthan Shanmugasundram Added Panel Childhood interstitial lung disease
Set list of related panels to R462
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease