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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