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Pulmonary Fibrosis_Interstitial Lung Disease v0.177 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.176 NHP2 Zornitza Stark Classified gene: NHP2 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.176 NHP2 Zornitza Stark Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40352450, 40073202; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 TERT Zornitza Stark Marked gene: TERT as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Pulmonary Fibrosis_Interstitial Lung Disease v0.174 TERT Zornitza Stark Publications for gene: TERT were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.173 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.172 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.172 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.172 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Pulmonary Fibrosis_Interstitial Lung Disease v0.171 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.170 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.169 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.169 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.169 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Pulmonary Fibrosis_Interstitial Lung Disease v0.168 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.167 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.166 SLC34A2 Zornitza Stark Marked gene: SLC34A2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.166 SLC34A2 Zornitza Stark Gene: slc34a2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.166 SLC34A2 Zornitza Stark Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, MIM# 265100
Pulmonary Fibrosis_Interstitial Lung Disease v0.165 SLC34A2 Zornitza Stark Publications for gene: SLC34A2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.164 SLC34A2 Zornitza Stark Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.163 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.163 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.163 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Pulmonary Fibrosis_Interstitial Lung Disease v0.162 SFTPC Zornitza Stark Publications for gene: SFTPC were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.161 SFTPC Zornitza Stark Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.160 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.160 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.160 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Pulmonary Fibrosis_Interstitial Lung Disease v0.159 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.158 SFTPB Zornitza Stark Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.157 SFTPA2 Zornitza Stark Marked gene: SFTPA2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.157 SFTPA2 Zornitza Stark Gene: sftpa2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.157 SFTPA2 Zornitza Stark Phenotypes for gene: SFTPA2 were changed from to Pulmonary fibrosis, idiopathic, MIM# 178500
Pulmonary Fibrosis_Interstitial Lung Disease v0.156 SFTPA2 Zornitza Stark Publications for gene: SFTPA2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.155 SFTPA2 Zornitza Stark Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.154 PARN Zornitza Stark Marked gene: PARN as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.154 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.154 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Pulmonary Fibrosis_Interstitial Lung Disease v0.153 PARN Zornitza Stark Publications for gene: PARN were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.152 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.151 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.150 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.150 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.150 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Pulmonary Fibrosis_Interstitial Lung Disease v0.149 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.148 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS4 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Restrictive lung disease and pulmonary fibrosis are a feature.
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Pulmonary Fibrosis_Interstitial Lung Disease v0.146 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.145 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.144 GBA Zornitza Stark Marked gene: GBA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.144 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.144 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, type I, MIM# 230800
Pulmonary Fibrosis_Interstitial Lung Disease v0.143 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type I, MIM# 230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 FAM111B Zornitza Stark Marked gene: FAM111B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 FAM111B Zornitza Stark Gene: fam111b has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 FAM111B Zornitza Stark Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Pulmonary Fibrosis_Interstitial Lung Disease v0.141 FAM111B Zornitza Stark Publications for gene: FAM111B were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.140 FAM111B Zornitza Stark Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.139 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.139 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.139 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Pulmonary Fibrosis_Interstitial Lung Disease v0.138 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.137 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pulmonary Fibrosis_Interstitial Lung Disease v0.136 CSF2RB Zornitza Stark Marked gene: CSF2RB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.136 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.136 CSF2RB Zornitza Stark Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370
Pulmonary Fibrosis_Interstitial Lung Disease v0.135 CSF2RB Zornitza Stark Publications for gene: CSF2RB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.134 CSF2RB Zornitza Stark Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.133 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.133 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.133 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Pulmonary Fibrosis_Interstitial Lung Disease v0.132 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.131 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.130 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000 to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000
Pulmonary Fibrosis_Interstitial Lung Disease v0.129 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.129 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.129 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000
Pulmonary Fibrosis_Interstitial Lung Disease v0.128 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.127 ASAH1 Zornitza Stark Classified gene: ASAH1 as Red List (low evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.127 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 ASAH1 Zornitza Stark edited their review of gene: ASAH1: Added comment: Respiratory insufficiency due to muscle weakness in Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950, does not fit with panel scope.; Changed rating: RED
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Pulmonary Fibrosis_Interstitial Lung Disease v0.125 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Pulmonary Fibrosis_Interstitial Lung Disease v0.124 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.123 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.120 Chirag Patel Added reviews for gene NF1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.120 Chirag Patel Added reviews for gene HRAS from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.119 Chirag Patel Added reviews for gene KCNK3 from panel Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease v0.118 TINF2 Chirag Patel Publications for gene: TINF2 were set to 18252230; 21477109; 18979121; 18669893; 21199492; 33097095
Pulmonary Fibrosis_Interstitial Lung Disease v0.118 TINF2 Chirag Patel Publications for gene: TINF2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZBTB7B Chirag Patel Marked gene: ZBTB7B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZBTB7B Chirag Patel Gene: zbtb7b has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZNF341 Chirag Patel Marked gene: ZNF341 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZNF341 Chirag Patel Gene: znf341 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 TINF2 Chirag Patel Mode of inheritance for gene: TINF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 Chirag Patel Copied gene ZBTB7B from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZBTB7B Chirag Patel gene: ZBTB7B was added
gene: ZBTB7B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB7B were set to PMID: 40392549
Phenotypes for gene: ZBTB7B were set to Inborn error of immunity, MONDO:0003778, ZBTB7B-related
Mode of pathogenicity for gene: ZBTB7B was set to Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 Chirag Patel Copied gene ZNF341 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZNF341 Chirag Patel gene: ZNF341 was added
gene: ZNF341 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 STAT1 Chirag Patel Marked gene: STAT1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 STAT1 Chirag Patel Gene: stat1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Mode of inheritance for gene: TINF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Phenotypes for gene: TINF2 were changed from Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130 to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 TINF2 Chirag Patel Marked gene: TINF2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 TINF2 Chirag Patel Gene: tinf2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 Chirag Patel Copied gene STAT1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STAT1 Chirag Patel gene: STAT1 was added
gene: STAT1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 28427548; 28367431; 21727188; 27379765; 26732859; 27114460
Phenotypes for gene: STAT1 were set to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Childhood bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STRA6 Chirag Patel Marked gene: STRA6 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STRA6 Chirag Patel Gene: stra6 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 Chirag Patel Copied gene STRA6 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STRA6 Chirag Patel gene: STRA6 was added
gene: STRA6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 17273977; 17503335; 19213032; 26373900; 30880327; 26373900; 25457163
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic 9, MIM# 601186
Pulmonary Fibrosis_Interstitial Lung Disease v0.114 Chirag Patel Added reviews for gene TINF2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 TBX4 Chirag Patel Marked gene: TBX4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 TBX4 Chirag Patel Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 Chirag Patel Copied gene TBX4 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 TBX4 Chirag Patel gene: TBX4 was added
gene: TBX4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
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
Publications for gene: TBX4 were set to 31761294; 31965066; 29631995; 23592887; 30578383
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 STAT3 Chirag Patel Marked gene: STAT3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 STAT3 Chirag Patel Gene: stat3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SOX18 Chirag Patel Marked gene: SOX18 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SOX18 Chirag Patel Gene: sox18 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SMAD9 Chirag Patel Marked gene: SMAD9 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SMAD9 Chirag Patel Gene: smad9 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 Chirag Patel Copied gene STAT3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 PGM3 Chirag Patel Marked gene: PGM3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 PGM3 Chirag Patel Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 STAT3 Chirag Patel gene: STAT3 was added
gene: STAT3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 17881745; 14566054; 25349174; 25038750; 25359994
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Childhood bronchiectasis, interstitial lung disease or pneumatocele
Mode of pathogenicity for gene: STAT3 was set to Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 Chirag Patel Copied gene SOX18 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 SOX18 Chirag Patel gene: SOX18 was added
gene: SOX18 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX18 were set to 30549413; 33851505
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 Chirag Patel Copied gene SMAD9 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 SMAD9 Chirag Patel gene: SMAD9 was added
gene: SMAD9 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD9 were set to 29844917; 21920918; 19211612; 21898662
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342
Pulmonary Fibrosis_Interstitial Lung Disease v0.110 Chirag Patel Copied gene PGM3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.110 PGM3 Chirag Patel gene: PGM3 was added
gene: PGM3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24698316; 24589341; 28704707; 30264496
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM# 615816; HIES (Job syndrome); Bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 RET Chirag Patel Marked gene: RET as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 RET Chirag Patel Gene: ret has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 PHOX2B Chirag Patel Marked gene: PHOX2B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 PHOX2B Chirag Patel Gene: phox2b has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 NF1 Chirag Patel Marked gene: NF1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 NF1 Chirag Patel Gene: nf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 LTBP4 Chirag Patel Marked gene: LTBP4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 LTBP4 Chirag Patel Gene: ltbp4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 Chirag Patel Copied gene RET from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 RET Chirag Patel gene: RET was added
gene: RET was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 18438890; 16443855; 12566528; 12086152
Phenotypes for gene: RET were set to Central hypoventilation syndrome, congenital, MIM#209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.108 Chirag Patel Copied gene PHOX2B from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.108 PHOX2B Chirag Patel gene: PHOX2B was added
gene: PHOX2B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHOX2B were set to 20301600
Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.107 Chirag Patel Copied gene NF1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.107 NF1 Chirag Patel gene: NF1 was added
gene: NF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 33446201; 32742882; 32437637
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1, MIM# 162200; Diffuse interstitial lung disease; Pulmonary hypertension
Pulmonary Fibrosis_Interstitial Lung Disease v0.106 Chirag Patel Copied gene LTBP4 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.106 LTBP4 Chirag Patel gene: LTBP4 was added
gene: LTBP4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP4 were set to 22829427; 19836010; 28684544
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, MIM# 613177; Urban-Rifkin-Davis Syndrome – cutis laxa; Infant/Childhood emphysema
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 LRBA Chirag Patel Marked gene: LRBA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 LRBA Chirag Patel Gene: lrba has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 KCNK3 Chirag Patel Marked gene: KCNK3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 KCNK3 Chirag Patel Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 Chirag Patel Copied gene LRBA from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 LRBA Chirag Patel gene: LRBA was added
gene: LRBA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 30479781; 26768763; 28956255; 28512785
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like; Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HRAS Chirag Patel Marked gene: HRAS as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HRAS Chirag Patel Gene: hras has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 Chirag Patel Copied gene KCNK3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 KCNK3 Chirag Patel gene: KCNK3 was added
gene: KCNK3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KCNK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KCNK3 were set to 23883380; 27649371
Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HPS6 Chirag Patel Marked gene: HPS6 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HPS6 Chirag Patel Gene: hps6 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 Chirag Patel Copied gene HPS6 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HPS6 Chirag Patel gene: HPS6 was added
gene: HPS6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 GATA2 Chirag Patel Marked gene: GATA2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 GATA2 Chirag Patel Gene: gata2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 Chirag Patel Copied gene GATA2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 GATA2 Chirag Patel gene: GATA2 was added
gene: GATA2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
treatable tags were added to gene: GATA2.
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21670465; 21242295; 21892158; 25707267; 6577833; 24345756; 24227816
Phenotypes for gene: GATA2 were set to Immunodeficiency 21, MIM# 614172; MONDO:0042982; Emberger syndrome, MIM# 614038; MONDO:0013540; chILD, childhood pulmonary alveolar proteinosis
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 GDNF Chirag Patel Marked gene: GDNF as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 GDNF Chirag Patel Gene: gdnf has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXP1 Chirag Patel Marked gene: FOXP1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXP1 Chirag Patel Gene: foxp1 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Marked gene: FOXC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FOXC2 Chirag Patel Marked gene: FOXC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FOXC2 Chirag Patel Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Marked gene: FOXC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FGFR2 Chirag Patel Phenotypes for gene: FGFR2 were changed from Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Phenotypes for gene: FGFR2 were changed from Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Phenotypes for gene: FGFR2 were changed from Ectrodactyly, pulmonary acinar dysplasia to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 FGFR2 Chirag Patel Marked gene: FGFR2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 FGFR2 Chirag Patel Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 Chirag Patel Copied gene HRAS from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 HRAS Chirag Patel gene: HRAS was added
gene: HRAS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 18039947; 18978662; 27102959
Phenotypes for gene: HRAS were set to Costello syndrome 218040; chILD, pulmonary arterial hypertension
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 Chirag Patel Copied gene GDNF from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 GDNF Chirag Patel gene: GDNF was added
gene: GDNF was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDNF were set to Central hypoventilation syndrome, MIM# 209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 Chirag Patel Copied gene FOXP1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 FOXP1 Chirag Patel gene: FOXP1 was added
gene: FOXP1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 28884888
Phenotypes for gene: FOXP1 were set to Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 Chirag Patel Copied gene FOXC2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 FOXC2 Chirag Patel gene: FOXC2 was added
gene: FOXC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 21918810; 25252123
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400; infant pulmonary lymphangiectasia
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 Chirag Patel Copied gene FGFR2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 FGFR2 Chirag Patel gene: FGFR2 was added
gene: FGFR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGFR2 were set to 27323706
Phenotypes for gene: FGFR2 were set to Ectrodactyly, pulmonary acinar dysplasia
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 CARD11 Chirag Patel Marked gene: CARD11 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 CARD11 Chirag Patel Gene: card11 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 Chirag Patel Copied gene CARD11 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 CARD11 Chirag Patel gene: CARD11 was added
gene: CARD11 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CARD11 were set to 28628108; 28826773
Phenotypes for gene: CARD11 were set to Immunodeficiency 11B with atopic dermatitis, MIM# 617638; HIES (Job syndrome); Bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 CAV1 Chirag Patel Marked gene: CAV1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 CAV1 Chirag Patel Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Childhood pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR1B Chirag Patel Marked gene: BMPR1B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR1B Chirag Patel Gene: bmpr1b has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR2 Chirag Patel Marked gene: BMPR2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR2 Chirag Patel Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ASCL1 Chirag Patel Marked gene: ASCL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ASCL1 Chirag Patel Gene: ascl1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ACVRL1 Chirag Patel Marked gene: ACVRL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ACVRL1 Chirag Patel Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 Chirag Patel Copied gene CAV1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 CAV1 Chirag Patel gene: CAV1 was added
gene: CAV1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAV1 were set to 27717241; 22474227
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, MIM# 615343; Lipodystrophy, familial partial, type 7, MIM# 606721
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 Chirag Patel Copied gene BMPR2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 BMPR2 Chirag Patel gene: BMPR2 was added
gene: BMPR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 27587546; 24355637; 22632830; 11115378
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 Chirag Patel Copied gene BMPR1B from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 BMPR1B Chirag Patel gene: BMPR1B was added
gene: BMPR1B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list
disputed tags were added to gene: BMPR1B.
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 22374147; 28768485
Phenotypes for gene: BMPR1B were set to Childhood pulmonary arterial hypertension
Mode of pathogenicity for gene: BMPR1B was set to Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.94 Chirag Patel Copied gene ASCL1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.94 ASCL1 Chirag Patel gene: ASCL1 was added
gene: ASCL1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASCL1 were set to 14532329
Phenotypes for gene: ASCL1 were set to Central hypoventilation syndrome, congenital, MIM# 209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.93 Chirag Patel Copied gene ACVRL1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.93 ACVRL1 Chirag Patel gene: ACVRL1 was added
gene: ACVRL1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 22632830; 27587546
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Childhood Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease v0.92 SRRM2 Zornitza Stark Classified gene: SRRM2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.92 SRRM2 Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.92 SRRM2 Zornitza Stark Marked gene: SRRM2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.92 SRRM2 Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.92 SRRM2 Zornitza Stark Classified gene: SRRM2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.92 SRRM2 Zornitza Stark Gene: srrm2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.91 SRRM2 Zornitza Stark gene: SRRM2 was added
gene: SRRM2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRRM2 were set to 40967764
Phenotypes for gene: SRRM2 were set to Intellectual developmental disorder, autosomal dominant 72, MIM# 620439
Review for gene: SRRM2 was set to GREEN
Added comment: Four de novo loss-of-function (LoF) variants in SRRM2 were identified in 4 out of 71 patients with persistent tachypnoea of infancy, suggesting this is part of the phenotypic spectrum for this condition. All four had mild DD/ID.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.90 NHP2 Chirag Patel gene: NHP2 was added
gene: NHP2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519
Review for gene: NHP2 was set to RED
Added comment: ClinGen 'limited' classification.

NHP2 ribonucleoprotein (NHP2) was first reported in relation to autosomal recessive dyskeratosis congenita in 2008 (Vulliamy et al., PMID 18523010). NHP2 biallelic variant carriers present with features common to other monogenic telomere biology disorders (TBD) like: oral leukoplakia, reticular skin pigmentation, nail dystrophy, bone marrow failure, intellectual disability, and short telomeres. Variation in other telomere related genes like TERT and TERC have been shown to be related to interstitial lung disease (ILD), but to date ILD has not been observed for this gene-disease entity (PMID 38718684). Seven variants (6 missense, and 1 stop-loss extension) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data from 3 different publications describing a total of 4 probands with ages of onset being reported in both childhood and adulthood. Additionally, 4 families have been reported with heterozygous variant carriers that have presented with features consistent with TBD. The ClinGen Interstitial Lung Disease GCEP has decided to exclude heterozygous cases from this curation due to high population frequencies and/or lack of sufficient detail regarding genotyping. If, however, more convincing data of autosomal dominant inheritance becomes available, the curated entity and classification will be revisited. This gene-disease relationship is supported by protein interaction data, a yeast model and functional alteration in non-patient cells; PMID 11160879, 11074001, 37440454). Experimental data demonstrated that variant NHP2 is related to a decrease in the expression of TERC, and that expression of variant NHP2 and interaction with NOP10 and DKC1 were reduced. The mechanism is unclear but thought to be LOF. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the ClinGen Interstitial Lung Disease GCEP on the meeting date April 15, 2025 (SOP 11). This gene-disease pair was originally evaluated by the General GCEP on June 1, 2017. It was reevaluated on August 1, 2025. Although additional case and experimental evidence (PMIDs: 37440454, 31985013) was published, the classification did not change.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.89 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.89 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.89 FGF10 Zornitza Stark Classified gene: FGF10 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.89 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.88 FGF10 Zornitza Stark gene: FGF10 was added
gene: FGF10 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF10 were set to 30639323; 30429870; 9916808
Phenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital (LAAD) syndrome - pulmonary hypoplasia
Review for gene: FGF10 was set to GREEN
Added comment: Association with pulmonary hypoplasia and interstitial lung disease reported in multiple families.
Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.87 TERC Zornitza Stark Marked gene: TERC as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.87 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.87 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Pulmonary Fibrosis_Interstitial Lung Disease v0.86 TERC Zornitza Stark Publications for gene: TERC were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.85 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 TERC Zornitza Stark edited their review of gene: TERC: Changed phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 POLA2 Bryony Thompson Marked gene: POLA2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 POLA2 Bryony Thompson Gene: pola2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 POLA2 Bryony Thompson Classified gene: POLA2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.84 POLA2 Bryony Thompson Gene: pola2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.83 POLA2 Bryony Thompson gene: POLA2 was added
gene: POLA2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLA2 were set to 39616267
Phenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137
Review for gene: POLA2 was set to GREEN
Added comment: Pulmonary fibrosis is a feature of the phenotype in 4 cases from 2 unrelated families with biallelic variants with functional evidence supporting an effect on telomere length. Pulmonary fibrosis is a common feature of telomere biology disorders.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.82 ZCCHC8 Zornitza Stark Publications for gene: ZCCHC8 were set to 31488579
Pulmonary Fibrosis_Interstitial Lung Disease v0.81 ZCCHC8 Zornitza Stark Classified gene: ZCCHC8 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.81 ZCCHC8 Zornitza Stark Gene: zcchc8 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.80 ZCCHC8 Zornitza Stark reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.80 WFDC2 Zornitza Stark Phenotypes for gene: WFDC2 were changed from bronchiectasis, MONDO:0004822, WFDC2-related to Bronchiectasis and nasal polyposis, MIM# 620984
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark edited their review of gene: WFDC2: Changed phenotypes: Bronchiectasis and nasal polyposis, MIM# 620984
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Marked gene: WFDC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Gene: wfdc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Tag founder tag was added to gene: WFDC2.
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Classified gene: WFDC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.79 WFDC2 Zornitza Stark Gene: wfdc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.78 WFDC2 Zornitza Stark gene: WFDC2 was added
gene: WFDC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WFDC2 were set to 38626355
Phenotypes for gene: WFDC2 were set to bronchiectasis, MONDO:0004822, WFDC2-related
Review for gene: WFDC2 was set to GREEN
Added comment: 11 individuals from 10 families reported with bi-allelic variants in this gene and bronchiectasis and nasal polyps. p.Cys49Arg is recurrent and may be a founder variant.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.77 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.76 CCBE1 Zornitza Stark edited their review of gene: CCBE1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.76 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.76 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.76 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.75 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Pulmonary Fibrosis_Interstitial Lung Disease v0.74 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.73 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.73 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.73 FBN1 Zornitza Stark Classified gene: FBN1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.73 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.72 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 31238364; 27138491; 17701892
Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700; neonatal
Review for gene: FBN1 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.71 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.71 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.71 FBLN5 Zornitza Stark Classified gene: FBLN5 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.71 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.70 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, MIM# 219100; childhood-onset emphysema
Review for gene: FBLN5 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.69 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.69 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.69 FAT4 Zornitza Stark Classified gene: FAT4 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.69 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.68 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT4 were set to 24913602; 14564208
Phenotypes for gene: FAT4 were set to Hennekam Syndrome, MIM# 235510; childhood pulmonary lymphangiectasia
Review for gene: FAT4 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.67 ELN Zornitza Stark Marked gene: ELN as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.67 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.67 ELN Zornitza Stark Classified gene: ELN as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.67 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.66 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Cutis laxa, autosomal dominant, MIM# 123700
Review for gene: ELN was set to GREEN
Added comment: Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.65 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.65 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.65 EFEMP2 Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.65 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.64 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM# 614437
Review for gene: EFEMP2 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.63 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.63 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.63 DOCK8 Zornitza Stark Classified gene: DOCK8 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.63 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.62 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Childhood bronchiectasis
Review for gene: DOCK8 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.61 CFTR Zornitza Stark Marked gene: CFTR as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.61 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.61 CFTR Zornitza Stark Classified gene: CFTR as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.61 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.60 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM# 219700
Review for gene: CFTR was set to GREEN
Added comment: Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.59 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.59 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.59 CCBE1 Zornitza Stark Classified gene: CCBE1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.59 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.58 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: CCBE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Review for gene: CCBE1 was set to GREEN
Added comment: Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.57 COPA Zornitza Stark Marked gene: COPA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.57 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.57 COPA Zornitza Stark Phenotypes for gene: COPA were changed from COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease to Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414
Pulmonary Fibrosis_Interstitial Lung Disease v0.56 COPA Chirag Patel Classified gene: COPA as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.56 COPA Chirag Patel Gene: copa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.55 COPA Chirag Patel gene: COPA was added
gene: COPA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: COPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COPA were set to PMID: 27048656, 30385646, 30804679, 29977900
Phenotypes for gene: COPA were set to COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis, and kidney disease
Review for gene: COPA was set to GREEN
gene: COPA was marked as current diagnostic
Added comment: Over 10 unrelated families reported.
Well-established gene-disease association.
Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.54 NAF1 Zornitza Stark Phenotypes for gene: NAF1 were changed from Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365
Pulmonary Fibrosis_Interstitial Lung Disease v0.53 NAF1 Zornitza Stark reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.53 ZCCHC8 Bryony Thompson Phenotypes for gene: ZCCHC8 were changed from Pulmonary fibrosis to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Pulmonary Fibrosis_Interstitial Lung Disease v0.52 ZCCHC8 Bryony Thompson edited their review of gene: ZCCHC8: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Pulmonary Fibrosis_Interstitial Lung Disease v0.52 ACD Bryony Thompson Marked gene: ACD as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.52 ACD Bryony Thompson Gene: acd has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.52 ACD Bryony Thompson Classified gene: ACD as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.52 ACD Bryony Thompson Gene: acd has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.51 ACD Bryony Thompson gene: ACD was added
gene: ACD was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: ACD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACD were set to 31515401; 27807141; 25205116
Phenotypes for gene: ACD were set to pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Mode of pathogenicity for gene: ACD was set to Other
Review for gene: ACD was set to AMBER
Added comment: 3 probands reported with heterozygous variants (only 2 of the variants including p.Lys170 look to possibly relevant)
PMID: 31515401 - proband 1 with bone marrow failure and pulmonary fibrosis in the context of a telomere syndrome heterozygous for recurrent p.Lys170del. Proband 2 with idiopathic pulmonary fibrosis heterozygous for p.Lys170Glu. Proband 3 with idiopathic pulmonary fibrosis heterozygous for p.Ala72Glu (9 hets in gnomAD - VUS), which was also found in the unaffected 83 yo father. All patients had a leukocyte telomere length <1st percentiles for age.
PMID: 27807141 - in vitro functional assays suggesting that the recurrent variant p.Lys170del is sufficient to cause the cellular underpinnings of dyskeratosis congenita, acting in a dosage-dependent mechanism rather than dominant-negative.
PMID: 25205116 - Lys170del identified in 18-yo proband, mother, and maternal grandmother presented with bone marrow failure of varying severity, and decreasing ages of presentation in successive generations. All with short telomeres. In vitro assays demonstrate the variant localises to telomeres but fails to recruit telomerase to telomeres.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.50 NAF1 Bryony Thompson Marked gene: NAF1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.50 NAF1 Bryony Thompson Gene: naf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.50 NAF1 Bryony Thompson Classified gene: NAF1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.50 NAF1 Bryony Thompson Gene: naf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.49 NAF1 Bryony Thompson gene: NAF1 was added
gene: NAF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAF1 were set to 27510903
Phenotypes for gene: NAF1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Review for gene: NAF1 was set to GREEN
Added comment: At least 3 probands/families with telomere-related pulmonary fibrosis and a supporting mouse model
PMID: 27510903 - 5 individuals from 2 unrelated families with pulmonary fibrosis-emphysema and extrapulmonary manifestations including myelodysplastic syndrome and liver disease, with LoF variants. Truncated NAF1 was detected in cells derived from patients, and, in cells in which a frameshift mutation was introduced by genome editing telomerase RNA levels were reduced. Shortened telomere length also segregated with the variants. A Naf1+/- mouse model had reduced telomerase RNA levels

ClinVar - 1 nonsense and 2 splice site variants (ID: 2443185, 1338525, 2443184) called LP by the Genetic Services Laboratory, University of Chicago but no clinical details were provided
- SCV002547372.1 - Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center - at least one individual with pulmonary fibrosis and leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.48 Zornitza Stark HPO terms changed from to Pulmonary fibrosis, HP:0002206; Abnormal pulmonary interstitial morphology, HP:0006530
List of related panels changed from to Pulmonary fibrosis; HP:0002206; Abnormal pulmonary interstitial morphology; HP:0006530
Pulmonary Fibrosis_Interstitial Lung Disease v0.47 SFTPA1 Zornitza Stark Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177
Pulmonary Fibrosis_Interstitial Lung Disease v0.46 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.46 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.45 SFTPA1 Tiong Tan reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32855221; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.45 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.43 AP3B1 Zornitza Stark Tag treatable tag was added to gene: AP3B1.
Tag clinical trial tag was added to gene: AP3B1.
Pulmonary Fibrosis_Interstitial Lung Disease v0.43 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Pulmonary Fibrosis_Interstitial Lung Disease v0.42 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Pulmonary Fibrosis_Interstitial Lung Disease v0.42 RPA1 Zornitza Stark Phenotypes for gene: RPA1 were changed from Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Pulmonary Fibrosis_Interstitial Lung Disease v0.41 RPA1 Zornitza Stark edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres
Pulmonary Fibrosis_Interstitial Lung Disease v0.41 TMEM173 Zornitza Stark Publications for gene: TMEM173 were set to 27613991; 32398023
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 TMEM173 Lucy Spencer reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32673614; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Marked gene: RPA1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.40 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.39 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 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: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.38 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from Idiopathic pulmonary fibrosis to Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611
Pulmonary Fibrosis_Interstitial Lung Disease v0.37 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Changed phenotypes: Idiopathic pulmonary fibrosis, Interstitial lung disease 1, MIM# 619611
Pulmonary Fibrosis_Interstitial Lung Disease v0.37 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Pulmonary Fibrosis_Interstitial Lung Disease v0.35 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.34 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 RTEL1 Zornitza Stark reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25848748, 25607374, 23959892; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Marked gene: MARS as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is MARS1.
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 AFF4 Zornitza Stark Classified gene: AFF4 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.32 AFF4 Zornitza Stark gene: AFF4 was added
gene: AFF4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFF4 were set to 31058441; 25730767
Phenotypes for gene: AFF4 were set to CHOPS syndrome, MIM# 616368
Review for gene: AFF4 was set to GREEN
Added comment: Chronic interstitial lung disease is a feature of this condition. More than 15 unrelated individuals reported.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.31 FLNA Zornitza Stark Marked gene: FLNA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.31 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.31 FLNA Zornitza Stark Classified gene: FLNA as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.31 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.30 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FLNA were set to 30547349
Phenotypes for gene: FLNA were set to Interstitial lung disease
Review for gene: FLNA was set to GREEN
Added comment: Variants in FLNA cause a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, and intellectual disability.

PMID 30547349 reviews 18 individuals with significant interstitial lung disease +/- other cardiac/neurological features.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.29 ARHGAP42 Zornitza Stark Marked gene: ARHGAP42 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.29 ARHGAP42 Zornitza Stark Gene: arhgap42 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.29 ARHGAP42 Zornitza Stark Phenotypes for gene: ARHGAP42 were changed from to Interstitial lung disease; systemic hypertension; immunological abnormalities
Pulmonary Fibrosis_Interstitial Lung Disease v0.28 ARHGAP42 Zornitza Stark gene: ARHGAP42 was added
gene: ARHGAP42 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGAP42 were set to 34232960
Review for gene: ARHGAP42 was set to RED
Added comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.27 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.26 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065; 29455859
Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia
Mode of pathogenicity for gene: OAS1 was set to Other
Review for gene: OAS1 was set to GREEN
Added comment: PMID 34145065:6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinaemia. PMID 29455859: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.25 FARSA Zornitza Stark Publications for gene: FARSA were set to 31355908
Pulmonary Fibrosis_Interstitial Lung Disease v0.24 FARSA Chirag Patel Classified gene: FARSA as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.24 FARSA Chirag Patel Gene: farsa has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 FARSA Chirag Patel reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33598926; Phenotypes: Rajab interstitial lung disease with brain calcifications 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Marked gene: ZCCHC8 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.23 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.22 ZCCHC8 Bryony Thompson gene: ZCCHC8 was added
gene: ZCCHC8 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Other
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.21 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.21 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.21 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Pulmonary Fibrosis_Interstitial Lung Disease v0.20 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.19 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Classified gene: FOXF1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.18 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.17 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXF1 were set to 23505205; 27071622; 27855150; 19500772
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Review for gene: FOXF1 was set to GREEN
Added comment: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported. Most are sporadic, but a few inherited, generally from mother, incomplete paternal imprinting of this gene has been suggested. Mechanism is LOF, many variants located in the DNA binding domain.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.16 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.15 NHLRC2 Paul De Fazio gene: NHLRC2 was added
gene: NHLRC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Review for gene: NHLRC2 was set to GREEN
gene: NHLRC2 was marked as current diagnostic
Added comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.15 MARS Zornitza Stark Marked gene: MARS as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.15 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.15 MARS Zornitza Stark Classified gene: MARS as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.15 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.14 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to 24103465; 25913036
Phenotypes for gene: MARS were set to Interstitial lung and liver disease, MIM#615486
Review for gene: MARS was set to GREEN
Added comment: Autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.
Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.13 FARSA Zornitza Stark Marked gene: FARSA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.13 FARSA Zornitza Stark Gene: farsa has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.13 FARSA Zornitza Stark Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2 619013 to Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Pulmonary Fibrosis_Interstitial Lung Disease v0.12 FARSA Zornitza Stark gene: FARSA was added
gene: FARSA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSA were set to 31355908
Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2 619013
Review for gene: FARSA was set to RED
Added comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Classified gene: TMEM173 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.11 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.10 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review
Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM173 were set to 27613991; 32398023
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934
Review for gene: TMEM173 was set to GREEN
Added comment: Four individuals reported with severe interstitial lung disease in the setting of STING-associated vasculopathy.
Sources: Expert Review
Pulmonary Fibrosis_Interstitial Lung Disease v0.9 ABCA3 Zornitza Stark Marked gene: ABCA3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.9 ABCA3 Zornitza Stark Gene: abca3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.9 ABCA3 Zornitza Stark Phenotypes for gene: ABCA3 were changed from to Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921
Pulmonary Fibrosis_Interstitial Lung Disease v0.8 ABCA3 Zornitza Stark Publications for gene: ABCA3 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.7 ABCA3 Zornitza Stark Mode of inheritance for gene: ABCA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.6 ABCA3 Zornitza Stark reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.6 SFTPA1 Zornitza Stark Marked gene: SFTPA1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.6 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.6 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.6 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.5 SFTPA1 Zornitza Stark gene: SFTPA1 was added
gene: SFTPA1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
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
Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177
Phenotypes for gene: SFTPA1 were set to Idiopathic pulmonary fibrosis
Review for gene: SFTPA1 was set to AMBER
Added comment: Four families and a mouse model, bi-allelic disease appears to be more severe, earlier onset.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.4 Zornitza Stark Panel name changed from Pulmonary Fibrosis_VCGS to Pulmonary Fibrosis_Interstitial Lung Disease
Panel types changed to Victorian Clinical Genetics Services
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Marked gene: FARSB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Phenotypes for gene: FARSB were changed from to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Pulmonary Fibrosis_Interstitial Lung Disease v0.2 FARSB Zornitza Stark Publications for gene: FARSB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.1 FARSB Zornitza Stark Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TINF2 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERT was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERC was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMPD1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC7A7 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 SLC34A2 Zornitza Stark gene: SLC34A2 was added
gene: SLC34A2 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC34A2 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 SFTPC Zornitza Stark gene: SFTPC was added
gene: SFTPC was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SFTPC was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SFTPB was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 SFTPA2 Zornitza Stark gene: SFTPA2 was added
gene: SFTPA2 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SFTPA2 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTEL1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARN was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NKX2-1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA3 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS4 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FARSB was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 FAM111B Zornitza Stark gene: FAM111B was added
gene: FAM111B was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM111B was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DKC1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 CSF2RB Zornitza Stark gene: CSF2RB was added
gene: CSF2RB was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF2RB was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF2RA was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASAH1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP3B1 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCA3 was set to Unknown
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 Zornitza Stark Added panel Pulmonary Fibrosis_VCGS