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Genomic newborn screening: BabyScreen+ v0.1494 PTH1R Zornitza Stark Gene: pth1r has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTH1R Zornitza Stark Phenotypes for gene: PTH1R were changed from Metaphyseal chondrodysplasia to Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Chondrodysplasia, Blomstrand type MIM#215045
Genomic newborn screening: BabyScreen+ v0.1493 PTH1R Zornitza Stark Mode of inheritance for gene: PTH1R was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1492 PTH1R Zornitza Stark Classified gene: PTH1R as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1492 PTH1R Zornitza Stark Gene: pth1r has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1491 PTH1R Zornitza Stark reviewed gene: PTH1R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Failure of tooth eruption, primary MIM#125350, Eiken syndrome MIM#600002, Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400, Chondrodysplasia, Blomstrand type MIM#215045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark Tag treatable tag was added to gene: PTPRC.
Tag immunological tag was added to gene: PTPRC.
Genomic newborn screening: BabyScreen+ v0.1491 PTPRC Zornitza Stark reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1491 PYGL Zornitza Stark Marked gene: PYGL as ready
Genomic newborn screening: BabyScreen+ v0.1491 PYGL Zornitza Stark Gene: pygl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1491 PYGL Zornitza Stark Phenotypes for gene: PYGL were changed from Glycogen storage disease VI to Glycogen storage disease VI, MIM# 232700
Genomic newborn screening: BabyScreen+ v0.1490 PYGL Zornitza Stark Tag treatable tag was added to gene: PYGL.
Tag metabolic tag was added to gene: PYGL.
Genomic newborn screening: BabyScreen+ v0.1490 PYGL Zornitza Stark reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1490 SPTB Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: no specific treatment available (?Are these treatable by HSCT?)

Non-genetic confirmatory test: not assessed; to: Established gene-disease association.

Childhood onset, haematological disorder. Elliptocytosis, aneamia in some cases

Treatment: no specific treatment available (?Are these treatable by HSCT?)

Non-genetic confirmatory test: not assessed
Genomic newborn screening: BabyScreen+ v0.1490 SPTB Seb Lunke Phenotypes for gene: SPTB were changed from Spherocytosis to Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948
Genomic newborn screening: BabyScreen+ v0.1489 SPTB Seb Lunke Classified gene: SPTB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1489 SPTB Seb Lunke Gene: sptb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1488 SPTB Seb Lunke Tag for review tag was added to gene: SPTB.
Genomic newborn screening: BabyScreen+ v0.1488 SPTB Seb Lunke reviewed gene: SPTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Marked gene: SPTA1 as ready
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Gene: spta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1488 SPTA1 Seb Lunke Phenotypes for gene: SPTA1 were changed from Elliptocytosis to Elliptocytosis-2 MIM# 130600; Pyropoikilocytosis MIM# 266140; Spherocytosis, type 3 MIM# 270970
Genomic newborn screening: BabyScreen+ v0.1487 SPTA1 Seb Lunke Mode of inheritance for gene: SPTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1486 SPTA1 Seb Lunke Classified gene: SPTA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1486 SPTA1 Seb Lunke Gene: spta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1485 SPTA1 Seb Lunke reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Elliptocytosis-2 MIM# 130600, Pyropoikilocytosis MIM# 266140, Spherocytosis, type 3 MIM# 270970; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1485 PYGM Zornitza Stark Marked gene: PYGM as ready
Genomic newborn screening: BabyScreen+ v0.1485 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1485 PYGM Zornitza Stark Phenotypes for gene: PYGM were changed from McCardle disease MIM# 608455 to McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.1484 PYGM Zornitza Stark Mode of inheritance for gene: PYGM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1483 PYGM Zornitza Stark Classified gene: PYGM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1483 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1482 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease, MIM# 232600, Glycogen storage disease, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1482 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Genomic newborn screening: BabyScreen+ v0.1482 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1482 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation to Capillary malformation-arteriovenous malformation 1, MIM#608354
Genomic newborn screening: BabyScreen+ v0.1481 RASA1 Zornitza Stark Classified gene: RASA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1481 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1480 RASA1 Zornitza Stark reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Tag for review tag was added to gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Marked gene: RB1 as ready
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Gene: rb1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1480 RB1 Zornitza Stark Phenotypes for gene: RB1 were changed from Retinoblastoma to Retinoblastoma, MIM# 180200
Genomic newborn screening: BabyScreen+ v0.1479 RB1 Zornitza Stark Tag cancer tag was added to gene: RB1.
Tag treatable tag was added to gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1479 RB1 Zornitza Stark reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoblastoma, MIM# 180200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1479 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Genomic newborn screening: BabyScreen+ v0.1479 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1479 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Congenital myasthenic syndrome, MIM#616326 to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
Genomic newborn screening: BabyScreen+ v0.1478 RAPSN Zornitza Stark Tag treatable tag was added to gene: RAPSN.
Tag neurological tag was added to gene: RAPSN.
Genomic newborn screening: BabyScreen+ v0.1478 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1478 RAG1 Zornitza Stark Marked gene: RAG1 as ready
Genomic newborn screening: BabyScreen+ v0.1478 RAG1 Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1478 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from Omenn syndrome, MIM#603554 to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Genomic newborn screening: BabyScreen+ v0.1477 RAG1 Zornitza Stark Tag treatable tag was added to gene: RAG1.
Tag immunological tag was added to gene: RAG1.
Genomic newborn screening: BabyScreen+ v0.1477 RAG1 Zornitza Stark reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1477 RAG2 Zornitza Stark Marked gene: RAG2 as ready
Genomic newborn screening: BabyScreen+ v0.1477 RAG2 Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1477 RAG2 Zornitza Stark Phenotypes for gene: RAG2 were changed from Omenn syndrome, MIM#603554 to Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650
Genomic newborn screening: BabyScreen+ v0.1476 RAG2 Zornitza Stark Tag treatable tag was added to gene: RAG2.
Tag immunological tag was added to gene: RAG2.
Genomic newborn screening: BabyScreen+ v0.1476 RAG2 Zornitza Stark reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457, Combined cellular and humoral immune defects with granulomas MIM# 233650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1476 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Genomic newborn screening: BabyScreen+ v0.1476 RAB7A Zornitza Stark Gene: rab7a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1476 RAB7A Zornitza Stark Phenotypes for gene: RAB7A were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 2B, MIM# 600882
Genomic newborn screening: BabyScreen+ v0.1475 RAB7A Zornitza Stark Classified gene: RAB7A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1475 RAB7A Zornitza Stark Gene: rab7a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1474 RAB7A Zornitza Stark reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Classified gene: RAB3GAP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1474 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP2 Zornitza Stark reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1473 RAB3GAP1 Zornitza Stark Phenotypes for gene: RAB3GAP1 were changed from Warburg micro syndrome to Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420
Genomic newborn screening: BabyScreen+ v0.1472 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1472 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1471 RAB3GAP1 Zornitza Stark reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1471 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Genomic newborn screening: BabyScreen+ v0.1471 RAB27A Zornitza Stark Gene: rab27a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1471 RAB27A Zornitza Stark Publications for gene: RAB27A were set to
Genomic newborn screening: BabyScreen+ v0.1470 RAB27A Zornitza Stark Tag for review tag was added to gene: RAB27A.
Tag immunological tag was added to gene: RAB27A.
Genomic newborn screening: BabyScreen+ v0.1470 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Classified gene: ORAI1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1470 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1469 ORAI1 Zornitza Stark Tag treatable tag was added to gene: ORAI1.
Tag immunological tag was added to gene: ORAI1.
Genomic newborn screening: BabyScreen+ v0.1469 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, MIM# 612782
Review for gene: ORAI1 was set to GREEN
Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)

Included here for AR disease. Onset is in newborn period. Life-threatening.

Treatment: BMT.

Non-genetic confirmatory testing: T cell proliferation assay
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1468 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Genomic newborn screening: BabyScreen+ v0.1468 RAI1 Zornitza Stark Gene: rai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1468 RAI1 Zornitza Stark Phenotypes for gene: RAI1 were changed from Smith-Magenis syndrome; Potocki-Lupski syndrome to Smith-Magenis syndrome (MIM#182290)
Genomic newborn screening: BabyScreen+ v0.1467 RAI1 Zornitza Stark Classified gene: RAI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1467 RAI1 Zornitza Stark Gene: rai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1466 RAI1 Zornitza Stark reviewed gene: RAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Magenis syndrome (MIM#182290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1466 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Genomic newborn screening: BabyScreen+ v0.1466 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1466 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from Thrombocytopaenia-absent radius syndrome to Thrombocytopenia-absent radius syndrome, MIM# 274000
Genomic newborn screening: BabyScreen+ v0.1465 RBM8A Zornitza Stark Classified gene: RBM8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1465 RBM8A Zornitza Stark Gene: rbm8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1464 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1464 RAB23 Zornitza Stark Marked gene: RAB23 as ready
Genomic newborn screening: BabyScreen+ v0.1464 RAB23 Zornitza Stark Gene: rab23 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1464 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from Carpenter syndrome to Carpenter syndrome (MIM#201000)
Genomic newborn screening: BabyScreen+ v0.1463 RAB23 Zornitza Stark Classified gene: RAB23 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1463 RAB23 Zornitza Stark Gene: rab23 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1462 RAB23 Zornitza Stark reviewed gene: RAB23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1462 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Genomic newborn screening: BabyScreen+ v0.1462 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1462 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome to Noonan syndrome 5, MIM# 611553
Genomic newborn screening: BabyScreen+ v0.1461 RAF1 Zornitza Stark Classified gene: RAF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1461 RAF1 Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1460 RAF1 Zornitza Stark reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark Marked gene: RDX as ready
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark Gene: rdx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark edited their review of gene: RDX: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1460 RDX Zornitza Stark reviewed gene: RDX: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 24, MIM# 611022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1460 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Genomic newborn screening: BabyScreen+ v0.1460 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1460 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome to Rothmund-Thomson syndrome, type 2, MIM# 268400
Genomic newborn screening: BabyScreen+ v0.1459 RECQL4 Zornitza Stark Classified gene: RECQL4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1459 RECQL4 Zornitza Stark Gene: recql4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1458 RECQL4 Zornitza Stark reviewed gene: RECQL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1458 RET Zornitza Stark Tag for review tag was added to gene: RET.
Tag cancer tag was added to gene: RET.
Tag treatable tag was added to gene: RET.
Genomic newborn screening: BabyScreen+ v0.1458 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1458 REN Zornitza Stark Marked gene: REN as ready
Genomic newborn screening: BabyScreen+ v0.1458 REN Zornitza Stark Gene: ren has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1458 REN Zornitza Stark Phenotypes for gene: REN were changed from Renal tubular dysgenesis to Renal tubular dysgenesis, MIM# 267430
Genomic newborn screening: BabyScreen+ v0.1457 REN Zornitza Stark Mode of inheritance for gene: REN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1456 REN Zornitza Stark changed review comment from: Established gene-disease association.

Presents as fetal anuria leading to perinatal death.

No specific treatment.; to: Established gene-disease association.

Bi-allelic LOF variants cause renal tubular dysgenesis, which presents as fetal anuria leading to perinatal death.. Mono-allelic variants, likely through a different mechanism (mostly missense) cause tubulointerstitial disease. More severe phenotype associated with variants that are located in the protein leader peptide and affecting its co-translational insertion in the endoplasmic reticulum (ER).

No specific treatment for either.
Genomic newborn screening: BabyScreen+ v0.1456 REN Zornitza Stark Classified gene: REN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1456 REN Zornitza Stark Gene: ren has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1455 REN Zornitza Stark reviewed gene: REN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1455 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Genomic newborn screening: BabyScreen+ v0.1455 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1455 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
Genomic newborn screening: BabyScreen+ v0.1454 RETREG1 Zornitza Stark Classified gene: RETREG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1454 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1453 RETREG1 Zornitza Stark reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Classified gene: RFWD3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1453 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1452 RFWD3 Zornitza Stark reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Marked gene: CIITA as ready
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Classified gene: CIITA as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1452 CIITA Zornitza Stark Gene: ciita has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1451 CIITA Zornitza Stark Tag treatable tag was added to gene: CIITA.
Tag immunological tag was added to gene: CIITA.
Genomic newborn screening: BabyScreen+ v0.1451 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
Review for gene: CIITA was set to GREEN
Added comment: 13 individuals of 11 unrelated families; two mouse models. Homozygous and compound heterozygous variants were identified in these individuals (missense, nonsense and splicing) resulting in premature stop codon and truncated protein, or inactive protein. Affected individuals typically present in infancy with severe (recurrent) respiratory and gastrointestinal tract infections and defective MHC II expression in PBMCs

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Marked gene: RFXAP as ready
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Classified gene: RFXAP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1450 RFXAP Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1449 RFXAP Zornitza Stark Tag treatable tag was added to gene: RFXAP.
Tag immunological tag was added to gene: RFXAP.
Genomic newborn screening: BabyScreen+ v0.1449 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920
Review for gene: RFXAP was set to GREEN
Added comment: 9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model

The most frequent variant is a deletion c. delG484fsX525 which has been identified in 4 individuals of different origins (North African, Turkish and East Asian).

Typically presents in infancy with recurrent bacterial infections, severe diarrhoea and failure to thrive.

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Marked gene: RFX5 as ready
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Classified gene: RFX5 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1448 RFX5 Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1447 RFX5 Zornitza Stark Tag treatable tag was added to gene: RFX5.
Tag immunological tag was added to gene: RFX5.
Genomic newborn screening: BabyScreen+ v0.1447 RFX5 Zornitza Stark gene: RFX5 was added
gene: RFX5 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX5 were set to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
Review for gene: RFX5 was set to GREEN
Added comment: Bare lymphocyte syndrome, type II, complementation group C

9 individuals from 8 unrelated families; multiple mouse models
Homozygous and Compound heterozygous (Nonsense, missense, splice site, single bp del) variants were reported resulting in truncated protein and loss of function.
All individuals presented with recurrent lower respiratory tract infection early in life, low CD4+ cells and/or failure to thrive, chronic diarrhoea, hepatosplenomegaly and low Ig levels.
----------
Bare lymphocyte syndrome, type II, complementation group E

2 siblings (twins) reported with RPX5 variants and new BLS group E phenotype; multiple functional studies
Identified homozygous missense variant (R149Q) which resulted in altered DNA-binding domain and loss of function.
These histo-identical twin brothers had normal numbers of CD4 + cells and are able to mount both cellular and humoral immune responses. They displayed absence of MHC class II surface expression on B cells and mononuclear cells.

Presentation is typically in infancy.

Treatment: BMT.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Gene: rfxank has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark Tag treatable tag was added to gene: RFXANK.
Tag immunological tag was added to gene: RFXANK.
Genomic newborn screening: BabyScreen+ v0.1446 RFXANK Zornitza Stark reviewed gene: RFXANK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MHC class II deficiency, complementation group B MIM# 209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1446 RMRP Zornitza Stark Marked gene: RMRP as ready
Genomic newborn screening: BabyScreen+ v0.1446 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1446 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia to Cartilage-hair hypoplasia MIM#250250
Genomic newborn screening: BabyScreen+ v0.1445 RMRP Zornitza Stark Tag for review tag was added to gene: RMRP.
Tag treatable tag was added to gene: RMRP.
Tag immunological tag was added to gene: RMRP.
Genomic newborn screening: BabyScreen+ v0.1445 RMRP Zornitza Stark reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia MIM#250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1445 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Genomic newborn screening: BabyScreen+ v0.1445 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1445 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 4, MIM# 610333
Genomic newborn screening: BabyScreen+ v0.1444 RNASEH2A Zornitza Stark Classified gene: RNASEH2A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1444 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2A Zornitza Stark reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, MIM# 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1443 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 2, MIM# 610181
Genomic newborn screening: BabyScreen+ v0.1442 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Tag for review tag was added to gene: RNASEH2B.
Tag neurological tag was added to gene: RNASEH2B.
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Classified gene: RNASEH2B as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1441 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1440 RNASEH2C Zornitza Stark Phenotypes for gene: RNASEH2C were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 3, MIM# 610329
Genomic newborn screening: BabyScreen+ v0.1439 RNASEH2C Zornitza Stark Publications for gene: RNASEH2C were set to
Genomic newborn screening: BabyScreen+ v0.1438 RNASEH2C Zornitza Stark Classified gene: RNASEH2C as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1438 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1437 RNASEH2C Zornitza Stark Tag for review tag was added to gene: RNASEH2C.
Tag neurological tag was added to gene: RNASEH2C.
Genomic newborn screening: BabyScreen+ v0.1437 RNASEH2C Zornitza Stark reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1437 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Genomic newborn screening: BabyScreen+ v0.1437 ROR2 Zornitza Stark Gene: ror2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1437 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from Robinow syndrome; Brachydactyly, type B1 to Robinow syndrome, autosomal recessive - MIM#268310
Genomic newborn screening: BabyScreen+ v0.1436 ROR2 Zornitza Stark Mode of inheritance for gene: ROR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1435 ROR2 Zornitza Stark Classified gene: ROR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1435 ROR2 Zornitza Stark Gene: ror2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1434 ROR2 Zornitza Stark reviewed gene: ROR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive - MIM#268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1434 RPGR Zornitza Stark Marked gene: RPGR as ready
Genomic newborn screening: BabyScreen+ v0.1434 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1434 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from Retinitis pigmentosa to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Genomic newborn screening: BabyScreen+ v0.1433 RPGR Zornitza Stark Classified gene: RPGR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1433 RPGR Zornitza Stark Gene: rpgr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1432 RPGR Zornitza Stark reviewed gene: RPGR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1432 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Genomic newborn screening: BabyScreen+ v0.1432 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1432 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Joubert syndrome; Meckel syndrome to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis
Genomic newborn screening: BabyScreen+ v0.1431 RPGRIP1L Zornitza Stark Classified gene: RPGRIP1L as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1431 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPGRIP1L Zornitza Stark reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark Tag treatable tag was added to gene: RPL11.
Tag haematological tag was added to gene: RPL11.
Genomic newborn screening: BabyScreen+ v0.1430 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark Tag treatable tag was added to gene: RPL15.
Tag haematological tag was added to gene: RPL15.
Genomic newborn screening: BabyScreen+ v0.1430 RPL15 Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Gene: rpl18 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Classified gene: RPL18 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1430 RPL18 Zornitza Stark Gene: rpl18 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1429 RPL18 Zornitza Stark reviewed gene: RPL18: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 18, MIM# 618310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1429 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1428 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1428 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1427 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Classified gene: RPL35 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1427 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1426 RPL35 Zornitza Stark reviewed gene: RPL35: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 19, MIM# 618312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Tag treatable tag was added to gene: RPL5.
Tag haematological tag was added to gene: RPL5.
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1426 RPL5 Zornitza Stark reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 6, MIM# 612561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1426 SLC35A2 Zornitza Stark Tag for review was removed from gene: SLC35A2.
Tag treatable tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1426 SLC30A10 Zornitza Stark Tag for review was removed from gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1426 SLC25A13 Zornitza Stark Tag for review was removed from gene: SLC25A13.
Tag treatable tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1426 KARS Zornitza Stark Classified gene: KARS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1426 KARS Zornitza Stark Gene: kars has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark Tag for review was removed from gene: KARS.
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark changed review comment from: Variants in this gene are associated with either isolated or complex deafness with leukoencephalopathy.

The deafness tends to be congenital/pre-lingual. For review, likely meets criteria though some individuals will have leukoencephalopathy which does not have a specific treatment.; to: Variants in this gene are associated with either isolated or complex deafness with leukoencephalopathy.

The deafness tends to be congenital/pre-lingual. For review, likely meets criteria though some individuals will have leukoencephalopathy which does not have a specific treatment.

Reviewed: significant uncertainty regarding outcome, exclude.
Genomic newborn screening: BabyScreen+ v0.1425 KARS Zornitza Stark edited their review of gene: KARS: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1425 GUSB Zornitza Stark Tag for review was removed from gene: GUSB.
Genomic newborn screening: BabyScreen+ v0.1425 RYR1 Zornitza Stark Tag for review was removed from gene: RYR1.
Genomic newborn screening: BabyScreen+ v0.1425 RYR1 Zornitza Stark changed review comment from: Well established association with susceptibility to malignant hyperthermia.

However, variants in this gene also cause a range of muscular phenotypes, for which there is no specific treatment.

Association with malignant hyperthermia is rated 'strongly actionable' in children by ClinGen.

MH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure.

There is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER).

Surgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.

MHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.

Do not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).

For review.; to: Well established association with susceptibility to malignant hyperthermia.

However, variants in this gene also cause a range of muscular phenotypes, for which there is no specific treatment.

Association with malignant hyperthermia is rated 'strongly actionable' in children by ClinGen.

MH susceptibility (MHS) is a pharmacogenetic skeletal muscle disorder where exposure to certain volatile anesthetics (i.e., desflurane, enflurane, halothane, isoflurane, sevoflurane), either alone or with a depolarizing muscle relaxant (succinylcholine), may trigger uncontrolled skeletal muscle hypermetabolism. An MH episode may begin with hypercapnia, rapidly rising end-tidal CO2, and tachycardia followed by hyperthermia. Additional symptoms may include acidosis, muscle rigidity, compartment syndrome, rhabdomyolysis and subsequent increased creatine kinase, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure.

There is mounting evidence that some individuals with MHS may also develop episodes triggered by non-anesthetic conditions such as heat and/or exercise. These non-anesthetic-induced episodes, often called MH-like syndrome, may manifest as exertional rhabdomyolysis (ER).

Surgical management recommendations include preparation of the anesthesia workstation to reduce or prevent exposure to triggering anesthetics (e.g., remove vaporizers from machine and replace all disposables), vigilant monitoring for signs and symptoms of MH during perioperative period, and close observation and monitoring postoperatively.

MHS patients should carry identification of their susceptibility and inform those responsible for their care of their MH status.

Do not use the following MH triggering drugs for MHS patients: inhaled general anesthetics (desflurane, enflurane, halothane, isoflurane, sevoflurane) and depolarizing muscle relaxants (succinylcholine).
Genomic newborn screening: BabyScreen+ v0.1425 CACNA1S Zornitza Stark Tag for review was removed from gene: CACNA1S.
Genomic newborn screening: BabyScreen+ v0.1425 ADA2 Zornitza Stark Tag for review was removed from gene: ADA2.
Tag treatable tag was added to gene: ADA2.
Tag immunological tag was added to gene: ADA2.
Genomic newborn screening: BabyScreen+ v0.1425 DMD Zornitza Stark changed review comment from: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only.

Onset in early childhood.

Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping.

Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels.

For review.; to: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only.

Onset in early childhood.

Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping.

Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels.

For review. Discuss with neurology. Should we only report variants that are likely to benefit from treatment?
Genomic newborn screening: BabyScreen+ v0.1425 SPRED1 Seb Lunke Marked gene: SPRED1 as ready
Genomic newborn screening: BabyScreen+ v0.1425 SPRED1 Seb Lunke Gene: spred1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1425 SPRED1 Seb Lunke Phenotypes for gene: SPRED1 were changed from Legius syndrome to Legius syndrome, MIM# 611431
Genomic newborn screening: BabyScreen+ v0.1424 SPRED1 Seb Lunke Classified gene: SPRED1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1424 SPRED1 Seb Lunke Gene: spred1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1423 SPRED1 Seb Lunke reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1423 DMD Zornitza Stark Marked gene: DMD as ready
Genomic newborn screening: BabyScreen+ v0.1423 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1423 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Becker muscular dystrophy; Duchenne muscular dystrophy, MIM# 310200; Duchenne muscular dystrophy; Cardiomyopathy, dilated to Duchenne muscular dystrophy MIM#310200
Genomic newborn screening: BabyScreen+ v0.1422 DMD Zornitza Stark Publications for gene: DMD were set to
Genomic newborn screening: BabyScreen+ v0.1421 DMD Zornitza Stark Classified gene: DMD as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1421 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1420 DMD Zornitza Stark Tag neurological tag was added to gene: DMD.
Genomic newborn screening: BabyScreen+ v0.1420 DMD Zornitza Stark reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 36278620, 36152336, 35562557, 35307847; Phenotypes: Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A14 Zornitza Stark Tag treatable tag was added to gene: SLC39A14.
Tag metabolic tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1420 SLC30A10 Zornitza Stark Tag treatable tag was added to gene: SLC30A10.
Tag metabolic tag was added to gene: SLC30A10.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35A2 Zornitza Stark Tag metabolic tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1420 SLC35C1 Zornitza Stark Tag metabolic tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark Tag for review was removed from gene: SLC39A7.
Tag treatable tag was added to gene: SLC39A7.
Tag immunological tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1420 SLC39A7 Zornitza Stark reviewed gene: SLC39A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1420 SLC2A1 Zornitza Stark Tag treatable tag was added to gene: SLC2A1.
Tag neurological tag was added to gene: SLC2A1.
Genomic newborn screening: BabyScreen+ v0.1420 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1420 DMD Seb Lunke Tag for review tag was added to gene: DMD.
Genomic newborn screening: BabyScreen+ v0.1420 SPR Seb Lunke Marked gene: SPR as ready
Genomic newborn screening: BabyScreen+ v0.1420 SPR Seb Lunke Gene: spr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1420 SPR Seb Lunke Phenotypes for gene: SPR were changed from Sepiapterin reductase deficiency to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Genomic newborn screening: BabyScreen+ v0.1419 SPR Seb Lunke reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1419 SLC37A4 Zornitza Stark Tag treatable tag was added to gene: SLC37A4.
Tag metabolic tag was added to gene: SLC37A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A4 Zornitza Stark Tag treatable tag was added to gene: SLC39A4.
Tag metabolic tag was added to gene: SLC39A4.
Genomic newborn screening: BabyScreen+ v0.1419 SLC39A8 Zornitza Stark Tag treatable tag was added to gene: SLC39A8.
Tag metabolic tag was added to gene: SLC39A8.
Genomic newborn screening: BabyScreen+ v0.1419 SLC3A1 Zornitza Stark Mode of inheritance for gene: SLC3A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Marked gene: SPINK5 as ready
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Gene: spink5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1418 SPINK5 Seb Lunke Phenotypes for gene: SPINK5 were changed from Netherton syndrome 1; Netherton syndrome to Netherton syndrome MIM# 256500
Genomic newborn screening: BabyScreen+ v0.1417 SLC3A1 Zornitza Stark Tag for review tag was added to gene: SLC3A1.
Tag treatable tag was added to gene: SLC3A1.
Tag renal tag was added to gene: SLC3A1.
Genomic newborn screening: BabyScreen+ v0.1417 SPINK5 Seb Lunke Classified gene: SPINK5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1417 SPINK5 Seb Lunke Gene: spink5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1416 SPINK5 Seb Lunke reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1416 SLC3A1 Zornitza Stark reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Marked gene: SPEG as ready
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Gene: speg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Classified gene: SPEG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1416 SPEG Seb Lunke Gene: speg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1415 SPEG Seb Lunke reviewed gene: SPEG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1415 SP110 Seb Lunke Marked gene: SP110 as ready
Genomic newborn screening: BabyScreen+ v0.1415 SP110 Seb Lunke Gene: sp110 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1415 SP110 Seb Lunke Phenotypes for gene: SP110 were changed from Hepatic venoocclusive disease with immunodeficiency to Hepatic veno-occlusive disease with immunodeficiency MIM#235550
Genomic newborn screening: BabyScreen+ v0.1414 SP110 Seb Lunke reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic veno-occlusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1414 SOX9 Seb Lunke Marked gene: SOX9 as ready
Genomic newborn screening: BabyScreen+ v0.1414 SOX9 Seb Lunke Gene: sox9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1414 SOX9 Seb Lunke Phenotypes for gene: SOX9 were changed from Campomelic dysplasia to Campomelic dysplasia, MIM# 114290
Genomic newborn screening: BabyScreen+ v0.1413 SOX9 Seb Lunke Classified gene: SOX9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1413 SOX9 Seb Lunke Gene: sox9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1412 SOX9 Seb Lunke reviewed gene: SOX9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Marked gene: SOX10 as ready
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Gene: sox10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Classified gene: SOX10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1412 SOX10 Seb Lunke Gene: sox10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1411 SOX10 Seb Lunke reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Marked gene: SNAP25 as ready
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Gene: snap25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Tag for review tag was added to gene: SNAP25.
Genomic newborn screening: BabyScreen+ v0.1411 SNAP25 Seb Lunke Phenotypes for gene: SNAP25 were changed from Myasthenic syndrome, congenital, 18, MIM# 616330 to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related
Genomic newborn screening: BabyScreen+ v0.1410 SNAP25 Seb Lunke Publications for gene: SNAP25 were set to
Genomic newborn screening: BabyScreen+ v0.1409 SNAP25 Seb Lunke Classified gene: SNAP25 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1409 SNAP25 Seb Lunke Gene: snap25 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1408 SNAP25 Seb Lunke reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke Marked gene: SMPX as ready
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke Gene: smpx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, neuro-muscular disorder

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed; to: Established gene-disease association.

Childhood onset, deafness

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Genomic newborn screening: BabyScreen+ v0.1408 SMPX Seb Lunke Phenotypes for gene: SMPX were changed from Deafness, X-linked to Deafness, X-linked 4, MIM# 300066
Genomic newborn screening: BabyScreen+ v0.1407 SMPX Seb Lunke Classified gene: SMPX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1407 SMPX Seb Lunke Gene: smpx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1406 SMPX Seb Lunke reviewed gene: SMPX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 4, MIM# 300066 Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1406 SMPD1 Seb Lunke Marked gene: SMPD1 as ready
Genomic newborn screening: BabyScreen+ v0.1406 SMPD1 Seb Lunke Gene: smpd1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1406 SMPD1 Seb Lunke Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B; Niemann-Pick disease, type A to Niemann-Pick disease, type A, MIM# 257200; Niemann-Pick disease, type B, MIM# 607616
Genomic newborn screening: BabyScreen+ v0.1405 SMPD1 Seb Lunke Publications for gene: SMPD1 were set to
Genomic newborn screening: BabyScreen+ v0.1404 SMPD1 Seb Lunke reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301544; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, Niemann-Pick disease, type B, MIM# 607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1404 SMC1A Seb Lunke Marked gene: SMC1A as ready
Genomic newborn screening: BabyScreen+ v0.1404 SMC1A Seb Lunke Gene: smc1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1404 SMC1A Seb Lunke Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 2, MIM# 300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Genomic newborn screening: BabyScreen+ v0.1403 SMC1A Seb Lunke Mode of inheritance for gene: SMC1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1402 SMC1A Seb Lunke Classified gene: SMC1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1402 SMC1A Seb Lunke Gene: smc1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1401 SMC1A Seb Lunke reviewed gene: SMC1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590, Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1401 SLC46A1 Zornitza Stark Tag treatable tag was added to gene: SLC46A1.
Tag metabolic tag was added to gene: SLC46A1.
Genomic newborn screening: BabyScreen+ v0.1401 SMAD3 Zornitza Stark Tag cardiac tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1401 SMARCAL1 Zornitza Stark Tag immunological tag was added to gene: SMARCAL1.
Genomic newborn screening: BabyScreen+ v0.1401 RPS15 Zornitza Stark Phenotypes for gene: RPS15 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
Genomic newborn screening: BabyScreen+ v0.1400 RPS15 Zornitza Stark Marked gene: RPS15 as ready
Genomic newborn screening: BabyScreen+ v0.1400 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1400 RPS15 Zornitza Stark Phenotypes for gene: RPS15 were changed from Diamond-Blackfan anemia to Diamond-Blackfan anaemia
Genomic newborn screening: BabyScreen+ v0.1399 RPS15 Zornitza Stark Publications for gene: RPS15 were set to
Genomic newborn screening: BabyScreen+ v0.1398 RPS15 Zornitza Stark Classified gene: RPS15 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1398 RPS15 Zornitza Stark Gene: rps15 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1397 RPS15 Zornitza Stark changed review comment from: Single individual reported.; to: Single individual reported in 2008, no reports since.
Genomic newborn screening: BabyScreen+ v0.1397 RPS15 Zornitza Stark reviewed gene: RPS15: Rating: RED; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Classified gene: RPS15A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1397 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS15A Zornitza Stark Tag for review tag was added to gene: RPS15A.
Tag treatable tag was added to gene: RPS15A.
Tag haematological tag was added to gene: RPS15A.
Genomic newborn screening: BabyScreen+ v0.1396 RPS15A Zornitza Stark reviewed gene: RPS15A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 20, MIM# 618313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark Tag treatable tag was added to gene: RPS17.
Tag haematological tag was added to gene: RPS17.
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark edited their review of gene: RPS17: Changed phenotypes: Diamond-Blackfan anaemia 4, MIM# 612527
Genomic newborn screening: BabyScreen+ v0.1396 RPS17 Zornitza Stark reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark Tag treatable tag was added to gene: RPS19.
Tag haematological tag was added to gene: RPS19.
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark edited their review of gene: RPS19: Changed phenotypes: Diamond-Blackfan anaemia 1, MIM# 105650
Genomic newborn screening: BabyScreen+ v0.1396 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark Tag treatable tag was added to gene: RPS24.
Tag haematological tag was added to gene: RPS24.
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark edited their review of gene: RPS24: Changed phenotypes: Diamond-blackfan anaemia 3, MIM# 610629
Genomic newborn screening: BabyScreen+ v0.1396 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark Tag treatable tag was added to gene: RPS26.
Tag haematological tag was added to gene: RPS26.
Genomic newborn screening: BabyScreen+ v0.1396 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 10, MIM# 613309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1396 SMARCAL1 Seb Lunke Marked gene: SMARCAL1 as ready
Genomic newborn screening: BabyScreen+ v0.1396 SMARCAL1 Seb Lunke Gene: smarcal1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1396 SMARCAL1 Seb Lunke Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia to Schimke immune-osseous dysplasia MIM# 242900
Genomic newborn screening: BabyScreen+ v0.1395 SMARCAL1 Seb Lunke Classified gene: SMARCAL1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1395 SMARCAL1 Seb Lunke Gene: smarcal1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1394 SMARCAL1 Seb Lunke Tag for review tag was added to gene: SMARCAL1.
Genomic newborn screening: BabyScreen+ v0.1394 SMARCAL1 Seb Lunke reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schimke immune-osseous dysplasia MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1394 SMAD4 Seb Lunke Marked gene: SMAD4 as ready
Genomic newborn screening: BabyScreen+ v0.1394 SMAD4 Seb Lunke Gene: smad4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1394 SMAD4 Seb Lunke Phenotypes for gene: SMAD4 were changed from Juvenile polyposis syndrome to Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210
Genomic newborn screening: BabyScreen+ v0.1393 SMAD4 Seb Lunke Publications for gene: SMAD4 were set to
Genomic newborn screening: BabyScreen+ v0.1392 SMAD4 Seb Lunke Classified gene: SMAD4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1392 SMAD4 Seb Lunke Gene: smad4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1391 SMAD4 Seb Lunke reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: 20301642; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900, Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1391 SMAD3 Seb Lunke Marked gene: SMAD3 as ready
Genomic newborn screening: BabyScreen+ v0.1391 SMAD3 Seb Lunke Gene: smad3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1391 SMAD3 Seb Lunke Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 3, MIM# 613795
Genomic newborn screening: BabyScreen+ v0.1390 SMAD3 Seb Lunke Publications for gene: SMAD3 were set to
Genomic newborn screening: BabyScreen+ v0.1389 SMAD3 Seb Lunke Tag for review tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1389 SMAD3 Seb Lunke reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301312; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1389 SLC4A1 Zornitza Stark Tag treatable tag was added to gene: SLC4A1.
Tag renal tag was added to gene: SLC4A1.
Genomic newborn screening: BabyScreen+ v0.1389 SLC52A2 Zornitza Stark Tag treatable tag was added to gene: SLC52A2.
Tag metabolic tag was added to gene: SLC52A2.
Genomic newborn screening: BabyScreen+ v0.1389 SLC52A3 Zornitza Stark Tag treatable tag was added to gene: SLC52A3.
Tag metabolic tag was added to gene: SLC52A3.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A1 Zornitza Stark Tag treatable tag was added to gene: SLC5A1.
Tag gastrointestinal tag was added to gene: SLC5A1.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A5 Zornitza Stark Tag treatable tag was added to gene: SLC5A5.
Tag endocrine tag was added to gene: SLC5A5.
Genomic newborn screening: BabyScreen+ v0.1389 SLC5A5 Zornitza Stark reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1389 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Genomic newborn screening: BabyScreen+ v0.1389 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1389 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Genomic newborn screening: BabyScreen+ v0.1388 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1388 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1387 SLC6A8 Zornitza Stark Tag for review tag was added to gene: SLC6A8.
Tag metabolic tag was added to gene: SLC6A8.
Genomic newborn screening: BabyScreen+ v0.1387 SLC6A8 Zornitza Stark reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24953403; Phenotypes: Cerebral creatine deficiency syndrome 1, MIM# 300352; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1387 SLC7A7 Zornitza Stark Tag treatable tag was added to gene: SLC7A7.
Tag metabolic tag was added to gene: SLC7A7.
Genomic newborn screening: BabyScreen+ v0.1387 SLC7A9 Zornitza Stark Mode of inheritance for gene: SLC7A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1386 SLC7A9 Zornitza Stark Tag for review tag was added to gene: SLC7A9.
Genomic newborn screening: BabyScreen+ v0.1386 SLC7A9 Zornitza Stark reviewed gene: SLC7A9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1386 SLX4 Zornitza Stark Tag treatable tag was added to gene: SLX4.
Tag haematological tag was added to gene: SLX4.
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1386 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1385 RPS27 Zornitza Stark Tag for review tag was added to gene: RPS27.
Tag treatable tag was added to gene: RPS27.
Tag haematological tag was added to gene: RPS27.
Genomic newborn screening: BabyScreen+ v0.1385 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Classified gene: RPS28 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1385 RPS28 Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark Tag for review tag was added to gene: RPS28.
Tag treatable tag was added to gene: RPS28.
Tag haematological tag was added to gene: RPS28.
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark changed review comment from: Congenital onset.

DBA is a treatable disorder: corticosteroids, red blood cell transfusion, BMT.; to: Two individuals reported in 2014, none since.

Congenital onset.

DBA is a treatable disorder: corticosteroids, red blood cell transfusion, BMT.
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark edited their review of gene: RPS28: Changed rating: RED; Changed phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1384 RPS28 Zornitza Stark commented on gene: RPS28
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Gene: rps29 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Classified gene: RPS29 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1384 RPS29 Zornitza Stark Gene: rps29 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1383 RPS29 Zornitza Stark Tag for review tag was added to gene: RPS29.
Tag treatable tag was added to gene: RPS29.
Tag haematological tag was added to gene: RPS29.
Genomic newborn screening: BabyScreen+ v0.1383 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1383 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Genomic newborn screening: BabyScreen+ v0.1383 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1383 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome MIM# 303600
Genomic newborn screening: BabyScreen+ v0.1382 RPS6KA3 Zornitza Stark Classified gene: RPS6KA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1382 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1381 RPS6KA3 Zornitza Stark reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Lowry syndrome MIM# 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1381 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Genomic newborn screening: BabyScreen+ v0.1381 RRM2B Zornitza Stark Gene: rrm2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1381 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Genomic newborn screening: BabyScreen+ v0.1380 RRM2B Zornitza Stark Classified gene: RRM2B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1380 RRM2B Zornitza Stark Gene: rrm2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1379 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075, Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1379 RS1 Zornitza Stark Marked gene: RS1 as ready
Genomic newborn screening: BabyScreen+ v0.1379 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1379 RS1 Zornitza Stark Phenotypes for gene: RS1 were changed from Retinoschisis, X linked to Retinoschisis, MIM#312700
Genomic newborn screening: BabyScreen+ v0.1378 RS1 Zornitza Stark Classified gene: RS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1378 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1377 RS1 Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis, MIM#312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1377 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Genomic newborn screening: BabyScreen+ v0.1377 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1377 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 11 (MIM#612649)
Genomic newborn screening: BabyScreen+ v0.1376 RSPH4A Zornitza Stark Classified gene: RSPH4A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1376 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1375 RSPH4A Zornitza Stark reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1375 RSPH9 Zornitza Stark Marked gene: RSPH9 as ready
Genomic newborn screening: BabyScreen+ v0.1375 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1375 RSPH9 Zornitza Stark Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary to Ciliary dyskinesia, primary, 12 (MIM#612650)
Genomic newborn screening: BabyScreen+ v0.1374 RSPH9 Zornitza Stark Classified gene: RSPH9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1374 RSPH9 Zornitza Stark Gene: rsph9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1373 RSPH9 Zornitza Stark reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1373 RUNX2 Zornitza Stark Marked gene: RUNX2 as ready
Genomic newborn screening: BabyScreen+ v0.1373 RUNX2 Zornitza Stark Gene: runx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1373 RUNX2 Zornitza Stark Phenotypes for gene: RUNX2 were changed from Cleidocranial dysostosis to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510
Genomic newborn screening: BabyScreen+ v0.1372 RUNX2 Zornitza Stark Classified gene: RUNX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1372 RUNX2 Zornitza Stark Gene: runx2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1371 RUNX2 Zornitza Stark reviewed gene: RUNX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1371 CACNA1S Zornitza Stark Marked gene: CACNA1S as ready
Genomic newborn screening: BabyScreen+ v0.1371 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1371 CACNA1S Zornitza Stark Phenotypes for gene: CACNA1S were changed from Malignant hyperthermia to Malignant hyperthermia susceptibility 5, MIM# 601887
Genomic newborn screening: BabyScreen+ v0.1370 CACNA1S Zornitza Stark Classified gene: CACNA1S as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1370 CACNA1S Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1369 CACNA1S Zornitza Stark Tag for review tag was added to gene: CACNA1S.
Tag pharmacogenomic tag was added to gene: CACNA1S.
Genomic newborn screening: BabyScreen+ v0.1369 CACNA1S Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1369 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Genomic newborn screening: BabyScreen+ v0.1369 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1369 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Malignant hyperthermia, multiminicore disease MIM#180901 to {Malignant hyperthermia susceptibility 1} MIM#145600
Genomic newborn screening: BabyScreen+ v0.1368 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 RYR1 Zornitza Stark Tag for review tag was added to gene: RYR1.
Tag pharmacogenomic tag was added to gene: RYR1.
Genomic newborn screening: BabyScreen+ v0.1367 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1} MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark Tag for review tag was added to gene: RYR2.
Tag cardiac tag was added to gene: RYR2.
Tag treatable tag was added to gene: RYR2.
Genomic newborn screening: BabyScreen+ v0.1367 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1367 INSR Zornitza Stark Marked gene: INSR as ready
Genomic newborn screening: BabyScreen+ v0.1367 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1367 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Leprechaunism to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Genomic newborn screening: BabyScreen+ v0.1366 INSR Zornitza Stark Mode of inheritance for gene: INSR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1365 INSR Zornitza Stark Classified gene: INSR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1365 INSR Zornitza Stark Gene: insr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1364 INSR Zornitza Stark reviewed gene: INSR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968, Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1364 SLX4 Seb Lunke Marked gene: SLX4 as ready
Genomic newborn screening: BabyScreen+ v0.1364 SLX4 Seb Lunke Gene: slx4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1364 SLX4 Seb Lunke reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Marked gene: SLCO2A1 as ready
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Gene: slco2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Classified gene: SLCO2A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1364 SLCO2A1 Seb Lunke Gene: slco2a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1363 SLCO2A1 Seb Lunke reviewed gene: SLCO2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1363 SLC9A6 Seb Lunke Marked gene: SLC9A6 as ready
Genomic newborn screening: BabyScreen+ v0.1363 SLC9A6 Seb Lunke Gene: slc9a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1363 SLC9A6 Seb Lunke Phenotypes for gene: SLC9A6 were changed from Christianson syndrome to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Genomic newborn screening: BabyScreen+ v0.1362 SLC9A6 Seb Lunke Classified gene: SLC9A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1362 SLC9A6 Seb Lunke Gene: slc9a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1361 SLC9A6 Seb Lunke reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Marked gene: SLC7A9 as ready
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Added comment: Comment when marking as ready: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: no specific treatment available

Non-genetic confirmatory test: not assessed
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Gene: slc7a9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1361 SLC7A9 Seb Lunke Phenotypes for gene: SLC7A9 were changed from Cystinuria to Cystinuria, MIM# 220100
Genomic newborn screening: BabyScreen+ v0.1360 SLC7A9 Seb Lunke Classified gene: SLC7A9 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1360 SLC7A9 Seb Lunke Gene: slc7a9 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A9 Seb Lunke reviewed gene: SLC7A9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke edited their review of gene: SLC7A7: Added comment: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: protein restriction, carnitine, citrulline, lysine supplementation, sodium benzoate

Non-genetic confirmatory test: 24-hour urinary excretion of cationic amino acids; Changed publications: 20301535
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Marked gene: SLC7A7 as ready
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Gene: slc7a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1359 SLC7A7 Seb Lunke Publications for gene: SLC7A7 were set to
Genomic newborn screening: BabyScreen+ v0.1358 SLC7A7 Seb Lunke Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance to Lysinuric protein intolerance, MIM# 222700
Genomic newborn screening: BabyScreen+ v0.1357 SLC7A7 Seb Lunke reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1357 SLC6A8 Seb Lunke Phenotypes for gene: SLC6A8 were changed from Creatine deficiency syndrome, X-linked to Cerebral creatine deficiency syndrome 1, MIM# 300352
Genomic newborn screening: BabyScreen+ v0.1356 SLC6A8 Seb Lunke Classified gene: SLC6A8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1356 SLC6A8 Seb Lunke Gene: slc6a8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A8 Seb Lunke reviewed gene: SLC6A8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 1, MIM# 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Marked gene: SLC6A5 as ready
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Gene: slc6a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Classified gene: SLC6A5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1355 SLC6A5 Seb Lunke Gene: slc6a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A5 Seb Lunke Tag for review tag was added to gene: SLC6A5.
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A5 Seb Lunke reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301437; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Marked gene: SLC6A19 as ready
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Gene: slc6a19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Classified gene: SLC6A19 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1354 SLC6A19 Seb Lunke Gene: slc6a19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1353 SLC6A19 Seb Lunke reviewed gene: SLC6A19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, MIM# 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1353 SLC5A5 Seb Lunke Marked gene: SLC5A5 as ready
Genomic newborn screening: BabyScreen+ v0.1353 SLC5A5 Seb Lunke Gene: slc5a5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1353 SLC5A5 Seb Lunke Phenotypes for gene: SLC5A5 were changed from Thyroid dyshormonogenesis 1 to Thyroid dyshormonogenesis 1, MIM# 274400
Genomic newborn screening: BabyScreen+ v0.1352 SLC5A5 Seb Lunke Publications for gene: SLC5A5 were set to
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A5 Seb Lunke reviewed gene: SLC5A5: Rating: ; Mode of pathogenicity: None; Publications: 33272083; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A1 Seb Lunke Marked gene: SLC5A1 as ready
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A1 Seb Lunke Gene: slc5a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1351 SLC5A1 Seb Lunke reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1351 SLC52A3 Seb Lunke Marked gene: SLC52A3 as ready
Genomic newborn screening: BabyScreen+ v0.1351 SLC52A3 Seb Lunke Gene: slc52a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1351 SLC52A3 Seb Lunke Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500 to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A3 Seb Lunke reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A2 Seb Lunke Marked gene: SLC52A2 as ready
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A2 Seb Lunke Gene: slc52a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1350 SLC52A2 Seb Lunke reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Marked gene: SLC4A11 as ready
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Gene: slc4a11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1350 SLC4A11 Seb Lunke Mode of inheritance for gene: SLC4A11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1349 SLC4A11 Seb Lunke Phenotypes for gene: SLC4A11 were changed from Corneal endothelial dystrophy to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400
Genomic newborn screening: BabyScreen+ v0.1348 SLC4A11 Seb Lunke Classified gene: SLC4A11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1348 SLC4A11 Seb Lunke Gene: slc4a11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1347 SLC4A11 Seb Lunke reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1347 INS Zornitza Stark Marked gene: INS as ready
Genomic newborn screening: BabyScreen+ v0.1347 INS Zornitza Stark Gene: ins has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1347 INS Zornitza Stark Phenotypes for gene: INS were changed from Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life to Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370
Genomic newborn screening: BabyScreen+ v0.1346 INS Zornitza Stark Mode of inheritance for gene: INS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark Tag for review tag was added to gene: INS.
Tag treatable tag was added to gene: INS.
Tag endocrine tag was added to gene: INS.
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark edited their review of gene: INS: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1345 INS Zornitza Stark reviewed gene: INS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, insulin-dependent, 2, MIM# 125852, Diabetes mellitus, permanent neonatal 4, MIM# 618858, Maturity-onset diabetes of the young, type 10, MIM# 613370; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1345 HBB Zornitza Stark Marked gene: HBB as ready
Genomic newborn screening: BabyScreen+ v0.1345 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1345 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Beta-thalassemia to Sickle cell anaemia, MIM# 603903; Thalassaemia, beta, MIM# 613985
Genomic newborn screening: BabyScreen+ v0.1344 HBB Zornitza Stark Tag for review tag was added to gene: HBB.
Tag treatable tag was added to gene: HBB.
Tag haematological tag was added to gene: HBB.
Genomic newborn screening: BabyScreen+ v0.1344 HBB Zornitza Stark reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903, Thalassaemia, beta, MIM# 613985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Tag treatable tag was added to gene: HBA2.
Tag haematological tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v0.1344 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark Tag for review tag was added to gene: HBA1.
Tag haematological tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v0.1344 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Marked gene: SLC4A1 as ready
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Gene: slc4a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Tag for review tag was added to gene: SLC4A1.
Genomic newborn screening: BabyScreen+ v0.1344 SLC4A1 Seb Lunke Phenotypes for gene: SLC4A1 were changed from Spherocytosis to Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590
Genomic newborn screening: BabyScreen+ v0.1343 SLC4A1 Seb Lunke Publications for gene: SLC4A1 were set to
Genomic newborn screening: BabyScreen+ v0.1342 SLC4A1 Seb Lunke Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1341 SLC4A1 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, metabolic condition

Treatment: oral alkali replacement therapy, potassium chloride

Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap; to: Established gene-disease association.

Childhood onset, metabolic condition

Treatment: oral alkali replacement therapy, potassium chloride. Not clear if treatment equally applicable to dominant and recessive forms of disease

Non-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap
Genomic newborn screening: BabyScreen+ v0.1341 SLC4A1 Seb Lunke reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044; Phenotypes: Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1341 SLC46A1 Seb Lunke Marked gene: SLC46A1 as ready
Genomic newborn screening: BabyScreen+ v0.1341 SLC46A1 Seb Lunke Gene: slc46a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1341 SLC46A1 Seb Lunke Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary, MIM# to Folate malabsorption, hereditary, MIM# 229050
Genomic newborn screening: BabyScreen+ v0.1340 SLC46A1 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, metabolic disorders

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels
Genomic newborn screening: BabyScreen+ v0.1340 SLC46A1 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset,

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association.

Childhood onset, metabolic disorders

Treatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral

Non-genetic confirmatory test: CSF and serum folate levels
Genomic newborn screening: BabyScreen+ v0.1340 SLC46A1 Seb Lunke reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1340 SLC45A2 Seb Lunke Marked gene: SLC45A2 as ready
Genomic newborn screening: BabyScreen+ v0.1340 SLC45A2 Seb Lunke Gene: slc45a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1340 SLC45A2 Seb Lunke Phenotypes for gene: SLC45A2 were changed from Oculocutaneous albinism, type IV to Albinism, oculocutaneous, type IV, MIM# 606574
Genomic newborn screening: BabyScreen+ v0.1339 SLC45A2 Seb Lunke Classified gene: SLC45A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1339 SLC45A2 Seb Lunke Gene: slc45a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1338 SLC45A2 Seb Lunke reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Marked gene: SLC3A1 as ready
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Gene: slc3a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1338 SLC3A1 Seb Lunke Phenotypes for gene: SLC3A1 were changed from Cystinuria to Cystinuria, MIM# 220100
Genomic newborn screening: BabyScreen+ v0.1337 SLC3A1 Seb Lunke Classified gene: SLC3A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1337 SLC3A1 Seb Lunke Gene: slc3a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1336 SLC3A1 Seb Lunke reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Marked gene: SLC39A8 as ready
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Gene: slc39a8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1336 SLC39A8 Seb Lunke Publications for gene: SLC39A8 were set to
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A8 Seb Lunke reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28722865; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Marked gene: SLC39A4 as ready
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Gene: slc39a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1335 SLC39A4 Seb Lunke Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica to Acrodermatitis enteropathica, MIM# 201100
Genomic newborn screening: BabyScreen+ v0.1334 SLC39A4 Seb Lunke Publications for gene: SLC39A4 were set to
Genomic newborn screening: BabyScreen+ v0.1333 SLC39A4 Seb Lunke reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Marked gene: SLC37A4 as ready
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Gene: slc37a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1333 SLC37A4 Seb Lunke Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, MIM#232220 to Glycogen storage disease Ib, MIM# 232220; Glycogen storage disease Ic, MIM# 232240; Congenital disorder of glycosylation, type IIw, MIM# 619525
Genomic newborn screening: BabyScreen+ v0.1332 SLC37A4 Seb Lunke Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke edited their review of gene: SLC37A4: Added comment: Established gene-disease association.

Childhood onset, metabolic disorder

Treatment: corn starch, nighttime intragastric continuous glucose infusion, allopurinol, statin, granulocyte-colony stimulating factor (G-CSF), empagliflozin

Non-genetic confirmatory test: no; Changed phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic, MIM# 232240, Congenital disorder of glycosylation, type IIw, MIM# 619525
Genomic newborn screening: BabyScreen+ v0.1331 SLC37A4 Seb Lunke reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic M232240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Marked gene: SLC35D1 as ready
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Gene: slc35d1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1331 SLC35D1 Seb Lunke Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia to Schneckenbecken dysplasia 269250, MONDO:0010013
Genomic newborn screening: BabyScreen+ v0.1330 SLC35D1 Seb Lunke Classified gene: SLC35D1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1330 SLC35D1 Seb Lunke Gene: slc35d1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1329 SLC35D1 Seb Lunke reviewed gene: SLC35D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Marked gene: SLC34A2 as ready
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Gene: slc34a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1329 SLC34A2 Seb Lunke Phenotypes for gene: SLC34A2 were changed from Pulmonary alveolar microlithiasis to Pulmonary alveolar microlithiasis, MIM# 265100
Genomic newborn screening: BabyScreen+ v0.1328 SLC34A2 Seb Lunke Classified gene: SLC34A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1328 SLC34A2 Seb Lunke Gene: slc34a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1327 SLC34A2 Seb Lunke reviewed gene: SLC34A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1327 SLC2A10 Seb Lunke Marked gene: SLC2A10 as ready
Genomic newborn screening: BabyScreen+ v0.1327 SLC2A10 Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1327 SLC2A10 Seb Lunke Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome to Arterial tortuosity syndrome MIM#208050
Genomic newborn screening: BabyScreen+ v0.1326 SLC2A10 Seb Lunke Classified gene: SLC2A10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1326 SLC2A10 Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A10 Seb Lunke reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Marked gene: SLC2A1 as ready
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Gene: slc2a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Added comment: Comment on mode of inheritance: Review if bi-allelic form is indeed relevant for NBS
Genomic newborn screening: BabyScreen+ v0.1325 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1324 SLC2A1 Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1323 SLC2A1 Seb Lunke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1323 SLC27A4 Seb Lunke Marked gene: SLC27A4 as ready
Genomic newborn screening: BabyScreen+ v0.1323 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1323 SLC27A4 Seb Lunke Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome to Ichthyosis prematurity syndrome, MIM#608649
Genomic newborn screening: BabyScreen+ v0.1322 SLC27A4 Seb Lunke Publications for gene: SLC27A4 were set to
Genomic newborn screening: BabyScreen+ v0.1321 SLC27A4 Seb Lunke Classified gene: SLC27A4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1321 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1320 SLC27A4 Seb Lunke reviewed gene: SLC27A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301593; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1320 SLC26A4 Seb Lunke Marked gene: SLC26A4 as ready
Genomic newborn screening: BabyScreen+ v0.1320 SLC26A4 Seb Lunke Gene: slc26a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1320 SLC26A4 Seb Lunke Phenotypes for gene: SLC26A4 were changed from Pendred syndrome to Pendred syndrome, MIM #274600
Genomic newborn screening: BabyScreen+ v0.1319 SLC26A4 Seb Lunke Publications for gene: SLC26A4 were set to
Genomic newborn screening: BabyScreen+ v0.1318 SLC26A4 Seb Lunke Classified gene: SLC26A4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1318 SLC26A4 Seb Lunke Gene: slc26a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1317 SLC26A4 Seb Lunke Tag for review tag was added to gene: SLC26A4.
Genomic newborn screening: BabyScreen+ v0.1317 SLC26A4 Seb Lunke reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: 20301640; Phenotypes: Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Marked gene: SLC39A7 as ready
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Gene: slc39a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Tag for review tag was added to gene: SLC39A7.
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Classified gene: SLC39A7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1317 SLC39A7 Seb Lunke Gene: slc39a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1316 SLC39A7 Seb Lunke gene: SLC39A7 was added
gene: SLC39A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
Added comment: Established gene-disease association.

Childhood onset, primary immunodeficiency

Treatment: Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment

Non-genetic confirmatory test: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Marked gene: SLC35C1 as ready
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Gene: slc35c1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1315 SLC35C1 Seb Lunke Phenotypes for gene: SLC35C1 were changed from Congenital disorder of glycosylation 2c to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Genomic newborn screening: BabyScreen+ v0.1314 SLC35C1 Seb Lunke Publications for gene: SLC35C1 were set to
Genomic newborn screening: BabyScreen+ v0.1313 SLC35C1 Seb Lunke Classified gene: SLC35C1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1313 SLC35C1 Seb Lunke Gene: slc35c1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke Tag for review tag was added to gene: SLC35C1.
Genomic newborn screening: BabyScreen+ v0.1312 SLC35C1 Seb Lunke reviewed gene: SLC35C1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29702557; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Marked gene: SLC35A2 as ready
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Gene: slc35a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1312 SLC35A2 Seb Lunke Phenotypes for gene: SLC35A2 were changed from Early-onset epileptic encephalopathy to Congenital disorder of glycosylation, type IIm, MIM #300896
Genomic newborn screening: BabyScreen+ v0.1311 SLC35A2 Seb Lunke Publications for gene: SLC35A2 were set to
Genomic newborn screening: BabyScreen+ v0.1310 SLC35A2 Seb Lunke Classified gene: SLC35A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1310 SLC35A2 Seb Lunke Gene: slc35a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke Tag for review tag was added to gene: SLC35A2.
Genomic newborn screening: BabyScreen+ v0.1309 SLC35A2 Seb Lunke reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32103184; Phenotypes: Congenital disorder of glycosylation, type IIm, MIM #300896; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Marked gene: SLC30A10 as ready
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Gene: slc30a10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Classified gene: SLC30A10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1309 SLC30A10 Seb Lunke Gene: slc30a10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1308 SLC30A10 Seb Lunke gene: SLC30A10 was added
gene: SLC30A10 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC30A10.
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 31089831
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, usually in first decade and multiple under 5 (youngest 2). Multi-system disorder

Treatment: manganese chelation therapy with EDTA-CaNa2 accepted as effective, other treatments under investigation.

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Marked gene: SLC39A14 as ready
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Tag for review tag was added to gene: SLC39A14.
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Classified gene: SLC39A14 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1307 SLC39A14 Seb Lunke Gene: slc39a14 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1306 SLC39A14 Seb Lunke gene: SLC39A14 was added
gene: SLC39A14 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 31089831
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: manganese chelation therapy with EDTA-CaNa2 with strong improvements in one patient, less effective in multiple others. Age of treatment start (earlier = better) and genotype may impact outcome.

Non-genetic confirmatory test: Mn level
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark commented on gene: GLA: For review: screen only for males or include both?
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark Marked gene: GLA as ready
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1305 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease (MIM# 301500)
Genomic newborn screening: BabyScreen+ v0.1304 GLA Zornitza Stark Publications for gene: GLA were set to
Genomic newborn screening: BabyScreen+ v0.1303 GLA Zornitza Stark Tag treatable tag was added to gene: GLA.
Tag metabolic tag was added to gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1303 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Marked gene: GGCX as ready
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1303 GGCX Zornitza Stark Publications for gene: GGCX were set to
Genomic newborn screening: BabyScreen+ v0.1302 GGCX Zornitza Stark Tag treatable tag was added to gene: GGCX.
Tag haematological tag was added to gene: GGCX.
Genomic newborn screening: BabyScreen+ v0.1302 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Genomic newborn screening: BabyScreen+ v0.1302 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1302 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma to Mucolipidosis III gamma, MIM# 252605
Genomic newborn screening: BabyScreen+ v0.1301 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Genomic newborn screening: BabyScreen+ v0.1300 GNPTG Zornitza Stark Classified gene: GNPTG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1300 GNPTG Zornitza Stark Gene: gnptg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1299 GNPTG Zornitza Stark reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Tag treatable tag was added to gene: GLUD1.
Tag endocrine tag was added to gene: GLUD1.
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1299 GLUD1 Zornitza Stark Publications for gene: GLUD1 were set to
Genomic newborn screening: BabyScreen+ v0.1298 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Genomic newborn screening: BabyScreen+ v0.1298 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1298 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Genomic newborn screening: BabyScreen+ v0.1297 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1296 HCFC1 Zornitza Stark Classified gene: HCFC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1296 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Marked gene: HNF1A as ready
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Gene: hnf1a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Classified gene: HNF1A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1295 HNF1A Zornitza Stark Gene: hnf1a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1294 HNF1A Zornitza Stark Tag treatable tag was added to gene: HNF1A.
Tag endocrine tag was added to gene: HNF1A.
Genomic newborn screening: BabyScreen+ v0.1294 HNF1A Zornitza Stark reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MODY, type III , MIM#600496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1294 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Genomic newborn screening: BabyScreen+ v0.1294 HNF4A Zornitza Stark Gene: hnf4a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1294 HNF4A Zornitza Stark Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850; MODY, type I, OMIM # 125850
Genomic newborn screening: BabyScreen+ v0.1293 HNF4A Zornitza Stark Classified gene: HNF4A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1293 HNF4A Zornitza Stark Gene: hnf4a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1292 HNF4A Zornitza Stark Tag for review tag was added to gene: HNF4A.
Tag endocrine tag was added to gene: HNF4A.
Genomic newborn screening: BabyScreen+ v0.1292 HNF4A Zornitza Stark reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026, MODY, type I, OMIM # 125850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1292 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Genomic newborn screening: BabyScreen+ v0.1292 HOMER2 Zornitza Stark Gene: homer2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1292 HOMER2 Zornitza Stark Phenotypes for gene: HOMER2 were changed from Autosomal dominant non syndromic deafness to Deafness, autosomal dominant 68, MIM# 616707
Genomic newborn screening: BabyScreen+ v0.1291 HOMER2 Zornitza Stark Classified gene: HOMER2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1291 HOMER2 Zornitza Stark Gene: homer2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1290 HOMER2 Zornitza Stark reviewed gene: HOMER2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 68, MIM# 616707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1290 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Genomic newborn screening: BabyScreen+ v0.1290 HPS1 Zornitza Stark Gene: hps1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1290 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300
Genomic newborn screening: BabyScreen+ v0.1289 HPS1 Zornitza Stark Classified gene: HPS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1289 HPS1 Zornitza Stark Gene: hps1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1288 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 1, MIM# 203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1288 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Genomic newborn screening: BabyScreen+ v0.1288 HPS3 Zornitza Stark Gene: hps3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1288 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072
Genomic newborn screening: BabyScreen+ v0.1287 HPS3 Zornitza Stark Classified gene: HPS3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1287 HPS3 Zornitza Stark Gene: hps3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1286 HPS3 Zornitza Stark reviewed gene: HPS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 3, MIM# 614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1286 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Genomic newborn screening: BabyScreen+ v0.1286 HPS4 Zornitza Stark Gene: hps4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1286 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073
Genomic newborn screening: BabyScreen+ v0.1285 HPS4 Zornitza Stark Classified gene: HPS4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1285 HPS4 Zornitza Stark Gene: hps4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1284 HPS4 Zornitza Stark reviewed gene: HPS4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 4, MIM# 614073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1284 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Genomic newborn screening: BabyScreen+ v0.1284 HPS5 Zornitza Stark Gene: hps5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1284 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)
Genomic newborn screening: BabyScreen+ v0.1283 HPS5 Zornitza Stark Classified gene: HPS5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1283 HPS5 Zornitza Stark Gene: hps5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1282 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 (MIM#614074); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Marked gene: PIGA as ready
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Classified gene: PIGA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1282 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1281 PIGA Zornitza Stark reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1281 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Genomic newborn screening: BabyScreen+ v0.1281 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1281 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from 17-beta-hydroxysteroid dehydrogenase X deficiency to HSD10 mitochondrial disease, MIM# 300438
Genomic newborn screening: BabyScreen+ v0.1280 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Genomic newborn screening: BabyScreen+ v0.1279 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1279 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1278 HSD17B10 Zornitza Stark reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HSD10 mitochondrial disease, MIM# 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1278 HPRT1 Zornitza Stark Marked gene: HPRT1 as ready
Genomic newborn screening: BabyScreen+ v0.1278 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1278 HPRT1 Zornitza Stark Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome 1 to Lesch-Nyhan syndrome, MIM# 300322
Genomic newborn screening: BabyScreen+ v0.1277 HPRT1 Zornitza Stark Publications for gene: HPRT1 were set to
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Tag for review tag was added to gene: HPRT1.
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Classified gene: HPRT1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1276 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1275 HPRT1 Zornitza Stark changed review comment from: Uncertain if these are symptomatic treatments.; to: Uncertain if these are essentially symptomatic treatments.
Genomic newborn screening: BabyScreen+ v0.1275 HPRT1 Zornitza Stark commented on gene: HPRT1: Uncertain if these are symptomatic treatments.
Genomic newborn screening: BabyScreen+ v0.1275 HPRT1 Zornitza Stark reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1275 HGD Zornitza Stark Marked gene: HGD as ready
Genomic newborn screening: BabyScreen+ v0.1275 HGD Zornitza Stark Gene: hgd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1275 HGD Zornitza Stark Phenotypes for gene: HGD were changed from Alkaptonuria to Alkaptonuria MIM#203500
Genomic newborn screening: BabyScreen+ v0.1274 HGD Zornitza Stark Publications for gene: HGD were set to
Genomic newborn screening: BabyScreen+ v0.1273 HGD Zornitza Stark Classified gene: HGD as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1273 HGD Zornitza Stark Gene: hgd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1272 PIGA John Christodoulou reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32256299, PMID: 24706016, PMID: 25885527, PMID: 24259184; Phenotypes: hypotonia, infantile epileptic encephalopathy, facial dysmorphism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1272 KARS John Christodoulou reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29615062; Phenotypes: leukoencephalopathy, SNHL, neurodenegeration, cardiomyopathy, visual loss; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1272 IDUA John Christodoulou reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438; Phenotypes: coarse facie, corneal clouding, progressive neurodegeneration, dysostosis multiplex, hepatosplenomegaly, hernias, macrocephaly, cardiac valve involvement, SNHL, upper airways obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1272 IDS John Christodoulou reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30143438, PMID: 33004112; Phenotypes: coarse facial features, cardiac valve involvement, hepatosplenomegaly, cardiomyopathy, airway obstruction, hydrocephalus, SNHL, dysostosis multiplex, kyphoscoliosis, progressive cognitive decline; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1272 HSD3B2 John Christodoulou reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079780, PMID: 33757164; Phenotypes: adrenal insufficiency, hypspadias, pseudohermaphroditism in males, mild masculinization in females; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B10 John Christodoulou reviewed gene: HSD17B10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22127393; Phenotypes: cardiomyopathy, early-onset intractable seizures, progressive choreoathetosis, spastic tetraplegia, optic atrophy, retinal degeneration, intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1272 HPRT1 John Christodoulou reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18067674; Phenotypes: kidney stones, nephrocalcinosis, gout, dystonia, choreoathetosis, ballismus, cognitive impairment, self-injurious behaviour, megaloblastic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1272 HGD John Christodoulou reviewed gene: HGD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34344451, PMID: 12501223, PMID: 12501223; Phenotypes: progressive arthritis, progressive calcific cardiac valve damage, renal stones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B3 Zornitza Stark Marked gene: HSD17B3 as ready
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1272 HSD17B3 Zornitza Stark Phenotypes for gene: HSD17B3 were changed from Pseudohermaphroditism, male, with gynecomastia to Pseudohermaphroditism, male, with gynecomastia MIM#264300
Genomic newborn screening: BabyScreen+ v0.1271 HSD17B3 Zornitza Stark Classified gene: HSD17B3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1271 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B3 Zornitza Stark reviewed gene: HSD17B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1270 HSD17B4 Zornitza Stark Phenotypes for gene: HSD17B4 were changed from D-bifunctional protein deficiency to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)
Genomic newborn screening: BabyScreen+ v0.1269 HSD17B4 Zornitza Stark Classified gene: HSD17B4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1269 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1268 HSD17B4 Zornitza Stark changed review comment from: Well established association with peroxisomal disorders.

Congenital onset, variable severity.

No specific treatment.; to: Well established association with peroxisomal disorders.

Congenital onset, variable severity. SNHL is of childhood onset.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.1268 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark Tag treatable tag was added to gene: HSD3B2.
Tag endocrine tag was added to gene: HSD3B2.
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B2 Zornitza Stark reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1268 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from 3 beta-hydroxysteroid dehydrogenase deficiency to Bile acid synthesis defect, congenital, 1 MIM#607765
Genomic newborn screening: BabyScreen+ v0.1267 HSD3B7 Zornitza Stark Tag treatable tag was added to gene: HSD3B7.
Tag liver tag was added to gene: HSD3B7.
Genomic newborn screening: BabyScreen+ v0.1267 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30373615; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1267 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Genomic newborn screening: BabyScreen+ v0.1267 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1267 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from Charcot-Marie-Tooth disease, axonal, type 2L to Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Genomic newborn screening: BabyScreen+ v0.1266 HSPB8 Zornitza Stark Classified gene: HSPB8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1266 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1265 HSPB8 Zornitza Stark reviewed gene: HSPB8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1265 HSPG2 Zornitza Stark Marked gene: HSPG2 as ready
Genomic newborn screening: BabyScreen+ v0.1265 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1265 HSPG2 Zornitza Stark Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome to Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; MONDO:0009140
Genomic newborn screening: BabyScreen+ v0.1264 HSPG2 Zornitza Stark Classified gene: HSPG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1264 HSPG2 Zornitza Stark Gene: hspg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1263 HSPG2 Zornitza Stark reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM# 255800, MONDO:0009717, Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410, MONDO:0009140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Gene: htra1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1263 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from CARASIL syndrome to CARASIL syndrome, MIM# 600142
Genomic newborn screening: BabyScreen+ v0.1262 HTRA1 Zornitza Stark Classified gene: HTRA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1262 HTRA1 Zornitza Stark Gene: htra1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1261 HTRA1 Zornitza Stark reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CARASIL syndrome, MIM# 600142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Marked gene: SLC4A4 as ready
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Gene: slc4a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Tag for review tag was added to gene: SLC4A4.
Genomic newborn screening: BabyScreen+ v0.1261 SLC4A4 Seb Lunke Phenotypes for gene: SLC4A4 were changed from Renal tubular acidosis, proximal, with ocular abnormalities to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Genomic newborn screening: BabyScreen+ v0.1260 SLC4A4 Seb Lunke reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 24978391; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1260 ILDR1 Zornitza Stark Marked gene: ILDR1 as ready
Genomic newborn screening: BabyScreen+ v0.1260 ILDR1 Zornitza Stark Gene: ildr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1260 ILDR1 Zornitza Stark Phenotypes for gene: ILDR1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 42, MIM# 609646
Genomic newborn screening: BabyScreen+ v0.1259 ILDR1 Zornitza Stark reviewed gene: ILDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 42, MIM# 609646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark Marked gene: IL2RB as ready
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark Tag treatable tag was added to gene: IL2RB.
Tag immunological tag was added to gene: IL2RB.
Genomic newborn screening: BabyScreen+ v0.1259 IL2RB Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1259 SLC5A6 Seb Lunke Marked gene: SLC5A6 as ready
Genomic newborn screening: BabyScreen+ v0.1259 SLC5A6 Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1259 SLC5A6 Seb Lunke Phenotypes for gene: SLC5A6 were changed from to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Genomic newborn screening: BabyScreen+ v0.1258 SLC5A6 Seb Lunke Classified gene: SLC5A6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1258 SLC5A6 Seb Lunke Gene: slc5a6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1257 SLC5A6 Seb Lunke gene: SLC5A6 was added
gene: SLC5A6 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC5A6.
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: SLC5A6 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, multisystemic metabolic disorder with highly variable manifestations

Treatment: biotin, pantothenic acid, lipoate

Non-genetic confirmatory test: no
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Marked gene: SLC5A7 as ready
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Classified gene: SLC5A7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1256 SLC5A7 Seb Lunke Gene: slc5a7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1255 SLC5A7 Seb Lunke gene: SLC5A7 was added
gene: SLC5A7 was added to gNBS. Sources: Literature
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to 20301347
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Review for gene: SLC5A7 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset, severe neuromuscular disorder
(recessive disease)

Treatment: Salbutamol, Acetylcholine-esterase inhibitors

Non-genetic confirmatory test: repetitive nerve stimulation test
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Marked gene: SLC9A3 as ready
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Classified gene: SLC9A3 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1254 SLC9A3 Seb Lunke Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1253 SLC9A3 Seb Lunke gene: SLC9A3 was added
gene: SLC9A3 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC9A3.
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital, MiM# 616868
Review for gene: SLC9A3 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, congenital diarrhea. ?severity

Treatment: sodium, bicarbonate

Non-genetic confirmatory test: fecal sodium concentration
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1252 ADA2 Seb Lunke Classified gene: ADA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1252 ADA2 Seb Lunke Gene: ada2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1251 ADA2 Seb Lunke Marked gene: ADA2 as ready
Genomic newborn screening: BabyScreen+ v0.1251 ADA2 Seb Lunke Gene: ada2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1251 ADA2 Seb Lunke gene: ADA2 was added
gene: ADA2 was added to gNBS. Sources: Literature
for review tags were added to gene: ADA2.
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Review for gene: ADA2 was set to GREEN
Added comment: Established gene-disease association.

Childhood onset but variable, multisystem disorder with variable severity. Onset common <5 years

Treatment: TNF inhibitor, hematopoietic stem cell transplantation, IL6 receptor antibody (tocilizumab)

Non-genetic confirmatory test: plasma ADA2 enzyme activity
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1250 IL7R Zornitza Stark Marked gene: IL7R as ready
Genomic newborn screening: BabyScreen+ v0.1250 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1250 IL7R Zornitza Stark Tag treatable tag was added to gene: IL7R.
Tag immunological tag was added to gene: IL7R.
Genomic newborn screening: BabyScreen+ v0.1250 IL7R Zornitza Stark reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark edited their review of gene: IL2RG: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark Tag treatable tag was added to gene: IL2RG.
Tag immunological tag was added to gene: IL2RG.
Genomic newborn screening: BabyScreen+ v0.1250 IL2RG Zornitza Stark reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1250 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Genomic newborn screening: BabyScreen+ v0.1250 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1250 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti 1 to Immunodeficiency 33 (300636)
Genomic newborn screening: BabyScreen+ v0.1249 IKBKG Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1249 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1248 IKBKG Zornitza Stark Tag for review tag was added to gene: IKBKG.
Tag treatable tag was added to gene: IKBKG.
Tag immunological tag was added to gene: IKBKG.
Genomic newborn screening: BabyScreen+ v0.1248 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 33 (300636); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Tag treatable tag was added to gene: IGSF1.
Tag endocrine tag was added to gene: IGSF1.
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Marked gene: IGSF1 as ready
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Gene: igsf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1248 IGSF1 Zornitza Stark Phenotypes for gene: IGSF1 were changed from Central hypothyroidism and testicular enlargement to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Genomic newborn screening: BabyScreen+ v0.1247 IGSF1 Zornitza Stark reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, central, and testicular enlargement, MIM# 300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark Tag treatable tag was added to gene: IGLL1.
Tag immunological tag was added to gene: IGLL1.
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark Marked gene: IGLL1 as ready
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark Gene: igll1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1247 IGLL1 Zornitza Stark reviewed gene: IGLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 2, MIM# 613500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1247 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Genomic newborn screening: BabyScreen+ v0.1247 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1247 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress to Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Genomic newborn screening: BabyScreen+ v0.1246 IGHMBP2 Zornitza Stark Classified gene: IGHMBP2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1246 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1245 IGHMBP2 Zornitza Stark reviewed gene: IGHMBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type VI, MIM# 604320, Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark Marked gene: IGHM as ready
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark Tag treatable tag was added to gene: IGHM.
Tag immunological tag was added to gene: IGHM.
Genomic newborn screening: BabyScreen+ v0.1245 IGHM Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1, MIM# 601495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1245 IDUA Zornitza Stark Marked gene: IDUA as ready
Genomic newborn screening: BabyScreen+ v0.1245 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1245 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, MIM#607014 to Mucopolysaccharidosis type 1, MONDO:0001586
Genomic newborn screening: BabyScreen+ v0.1244 IDUA Zornitza Stark Tag treatable tag was added to gene: IDUA.
Tag metabolic tag was added to gene: IDUA.
Genomic newborn screening: BabyScreen+ v0.1244 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type 1, MONDO:0001586; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1244 IDS Zornitza Stark Marked gene: IDS as ready
Genomic newborn screening: BabyScreen+ v0.1244 IDS Zornitza Stark Gene: ids has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1244 IDS Zornitza Stark Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II to Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
Genomic newborn screening: BabyScreen+ v0.1243 IDS Zornitza Stark Tag treatable tag was added to gene: IDS.
Tag metabolic tag was added to gene: IDS.
Genomic newborn screening: BabyScreen+ v0.1243 IDS Zornitza Stark edited their review of gene: IDS: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1243 IDS Zornitza Stark reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1243 IL10RA Zornitza Stark Marked gene: IL10RA as ready
Genomic newborn screening: BabyScreen+ v0.1243 IL10RA Zornitza Stark Gene: il10ra has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1243 IL10RA Zornitza Stark Phenotypes for gene: IL10RA were changed from Inflammatory bowel disease, MIM#613148 to Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Genomic newborn screening: BabyScreen+ v0.1242 IL10RA Zornitza Stark Tag treatable tag was added to gene: IL10RA.
Tag immunological tag was added to gene: IL10RA.
Genomic newborn screening: BabyScreen+ v0.1242 IL10RA Zornitza Stark reviewed gene: IL10RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1242 INVS Zornitza Stark Marked gene: INVS as ready
Genomic newborn screening: BabyScreen+ v0.1242 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1242 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2 to Nephronophthisis 2, infantile, (MIM#602088)
Genomic newborn screening: BabyScreen+ v0.1241 INVS Zornitza Stark Classified gene: INVS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1241 INVS Zornitza Stark Gene: invs has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1240 INVS Zornitza Stark reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1240 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Genomic newborn screening: BabyScreen+ v0.1240 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1240 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5 to Senior-Loken syndrome 5, MIM# 609254
Genomic newborn screening: BabyScreen+ v0.1239 IQCB1 Zornitza Stark Classified gene: IQCB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1239 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1238 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Senior-Loken syndrome 5, MIM# 609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark Tag treatable tag was added to gene: IRAK4.
Tag immunological tag was added to gene: IRAK4.
Genomic newborn screening: BabyScreen+ v0.1238 IRAK4 Zornitza Stark reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 67, MIM# 607676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1238 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Genomic newborn screening: BabyScreen+ v0.1238 IRF6 Zornitza Stark Gene: irf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1238 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from van der Woude syndrome MIM# 119300 to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Genomic newborn screening: BabyScreen+ v0.1237 IRF6 Zornitza Stark Classified gene: IRF6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1237 IRF6 Zornitza Stark Gene: irf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1236 IRF6 Zornitza Stark reviewed gene: IRF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1236 ISPD Zornitza Stark Marked gene: ISPD as ready
Genomic newborn screening: BabyScreen+ v0.1236 ISPD Zornitza Stark Gene: ispd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1236 ISPD Zornitza Stark Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Genomic newborn screening: BabyScreen+ v0.1235 ISPD Zornitza Stark Classified gene: ISPD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1235 ISPD Zornitza Stark Gene: ispd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1234 ISPD Zornitza Stark reviewed gene: ISPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Gene: itga3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Classified gene: ITGA3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1234 ITGA3 Zornitza Stark Gene: itga3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1233 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark Marked gene: ITGB2 as ready
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark Gene: itgb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark Tag treatable tag was added to gene: ITGB2.
Tag immunological tag was added to gene: ITGB2.
Genomic newborn screening: BabyScreen+ v0.1233 ITGB2 Zornitza Stark reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, MIM# 116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1233 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Genomic newborn screening: BabyScreen+ v0.1233 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1233 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Genomic newborn screening: BabyScreen+ v0.1232 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1231 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1231 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1230 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark Marked gene: IYD as ready
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark Gene: iyd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark Tag treatable tag was added to gene: IYD.
Tag endocrine tag was added to gene: IYD.
Genomic newborn screening: BabyScreen+ v0.1230 IYD Zornitza Stark reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1230 HK1 Zornitza Stark Marked gene: HK1 as ready
Genomic newborn screening: BabyScreen+ v0.1230 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1230 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Hemolytic anemia due to hexokinase deficiency; Haemolytic anaemia due to hexokinase deficiency , MIM#235700 to Hyperinsulinism MONDO:0002177, HK1-related
Genomic newborn screening: BabyScreen+ v0.1229 HK1 Zornitza Stark Mode of inheritance for gene: HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1228 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1228 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1227 HK1 Zornitza Stark reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark Marked gene: JAK3 as ready
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark Tag treatable tag was added to gene: JAK3.
Tag immunological tag was added to gene: JAK3.
Genomic newborn screening: BabyScreen+ v0.1227 JAK3 Zornitza Stark reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1227 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Genomic newborn screening: BabyScreen+ v0.1227 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1227 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from Alagille syndrome to Alagille syndrome, MIM# 1 118450
Genomic newborn screening: BabyScreen+ v0.1226 JAG1 Zornitza Stark Classified gene: JAG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1226 JAG1 Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1225 JAG1 Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1225 KCNJ1 Zornitza Stark Marked gene: KCNJ1 as ready
Genomic newborn screening: BabyScreen+ v0.1225 KCNJ1 Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1225 KCNJ1 Zornitza Stark Phenotypes for gene: KCNJ1 were changed from Bartter syndrome to Bartter syndrome, type 2, 241200
Genomic newborn screening: BabyScreen+ v0.1224 KCNJ1 Zornitza Stark reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1224 KCNA1 Zornitza Stark Marked gene: KCNA1 as ready
Genomic newborn screening: BabyScreen+ v0.1224 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1224 KCNA1 Zornitza Stark Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1 to Episodic ataxia/myokymia syndrome, MIM# 160120
Genomic newborn screening: BabyScreen+ v0.1223 KCNA1 Zornitza Stark Classified gene: KCNA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1223 KCNA1 Zornitza Stark Gene: kcna1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1222 KCNA1 Zornitza Stark reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia/myokymia syndrome, MIM# 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1222 KARS Zornitza Stark Marked gene: KARS as ready
Genomic newborn screening: BabyScreen+ v0.1222 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1222 KARS Zornitza Stark Phenotypes for gene: KARS were changed from deafness with progressive leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Genomic newborn screening: BabyScreen+ v0.1221 KARS Zornitza Stark Tag for review tag was added to gene: KARS.
Genomic newborn screening: BabyScreen+ v0.1221 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147, Deafness, autosomal recessive 89, MIM# 613916, Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1221 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Genomic newborn screening: BabyScreen+ v0.1221 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1221 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from Koolen-De Vries syndrome to Koolen-De Vries syndrome, MIM# 610443
Genomic newborn screening: BabyScreen+ v0.1220 KANSL1 Zornitza Stark Classified gene: KANSL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1220 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1219 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Koolen-De Vries syndrome, MIM# 610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1219 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Genomic newborn screening: BabyScreen+ v0.1219 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1219 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from Andersen cardiodysrhythmic periodic paralysis to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622
Genomic newborn screening: BabyScreen+ v0.1218 KCNJ2 Zornitza Stark Classified gene: KCNJ2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1218 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1217 KCNJ2 Zornitza Stark Tag for review tag was added to gene: KCNJ2.
Tag cardiac tag was added to gene: KCNJ2.
Genomic newborn screening: BabyScreen+ v0.1217 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1217 KCNQ4 Zornitza Stark Marked gene: KCNQ4 as ready
Genomic newborn screening: BabyScreen+ v0.1217 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1217 KCNQ4 Zornitza Stark Phenotypes for gene: KCNQ4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 2A, MIM# 600101
Genomic newborn screening: BabyScreen+ v0.1216 KCNQ4 Zornitza Stark Classified gene: KCNQ4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1216 KCNQ4 Zornitza Stark Gene: kcnq4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1215 KCNQ4 Zornitza Stark reviewed gene: KCNQ4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1215 KBTBD13 Zornitza Stark Marked gene: KBTBD13 as ready
Genomic newborn screening: BabyScreen+ v0.1215 KBTBD13 Zornitza Stark Gene: kbtbd13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1215 KBTBD13 Zornitza Stark Phenotypes for gene: KBTBD13 were changed from Nemaline myopathy to Nemaline myopathy 6, autosomal dominant, MIM# 609273; Hereditary motor neuropathy late-onset; limb girdle muscular dystrophy
Genomic newborn screening: BabyScreen+ v0.1214 KBTBD13 Zornitza Stark Mode of inheritance for gene: KBTBD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1213 KBTBD13 Zornitza Stark Classified gene: KBTBD13 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1213 KBTBD13 Zornitza Stark Gene: kbtbd13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1212 KBTBD13 Zornitza Stark reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 6, autosomal dominant, MIM# 609273, Hereditary motor neuropathy late-onset, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Marked gene: KCNT1 as ready
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Classified gene: KCNT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1212 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1211 KCNT1 Zornitza Stark reviewed gene: KCNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 14, MIM# 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1211 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Genomic newborn screening: BabyScreen+ v0.1211 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1211 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from Epilepsy, progressive myoclonic to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Genomic newborn screening: BabyScreen+ v0.1210 KCTD7 Zornitza Stark Classified gene: KCTD7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1210 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1209 KCTD7 Zornitza Stark reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1209 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Genomic newborn screening: BabyScreen+ v0.1209 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1209 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis IIIC to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
Genomic newborn screening: BabyScreen+ v0.1208 HGSNAT Zornitza Stark Classified gene: HGSNAT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1208 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1207 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1207 HGF Zornitza Stark Marked gene: HGF as ready
Genomic newborn screening: BabyScreen+ v0.1207 HGF Zornitza Stark Gene: hgf has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1207 HGF Zornitza Stark Phenotypes for gene: HGF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 39, MIM# 608265
Genomic newborn screening: BabyScreen+ v0.1206 HGF Zornitza Stark Tag deep intronic tag was added to gene: HGF.
Tag founder tag was added to gene: HGF.
Genomic newborn screening: BabyScreen+ v0.1206 HGF Zornitza Stark reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1206 HGD Zornitza Stark Tag treatable tag was added to gene: HGD.
Tag metabolic tag was added to gene: HGD.
Genomic newborn screening: BabyScreen+ v0.1206 HGD Zornitza Stark edited their review of gene: HGD: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1206 HGD Zornitza Stark reviewed gene: HGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alkaptonuria MIM#203500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1206 HEXB Zornitza Stark Marked gene: HEXB as ready
Genomic newborn screening: BabyScreen+ v0.1206 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1206 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Genomic newborn screening: BabyScreen+ v0.1205 HEXB Zornitza Stark Classified gene: HEXB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1205 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1204 HEXB Zornitza Stark reviewed gene: HEXB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1204 HEXA Zornitza Stark Marked gene: HEXA as ready
Genomic newborn screening: BabyScreen+ v0.1204 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1204 HEXA Zornitza Stark Phenotypes for gene: HEXA were changed from Tay-Sachs disease to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800
Genomic newborn screening: BabyScreen+ v0.1203 HEXA Zornitza Stark Classified gene: HEXA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1203 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1202 HEXA Zornitza Stark reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1202 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Genomic newborn screening: BabyScreen+ v0.1202 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1202 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle to Cornelia de Lange syndrome 5, MIM# 300882
Genomic newborn screening: BabyScreen+ v0.1201 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1200 HDAC8 Zornitza Stark Classified gene: HDAC8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1200 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1199 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1199 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Genomic newborn screening: BabyScreen+ v0.1199 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1199 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from Pelizaeus-Merzbacher-like disease to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
Genomic newborn screening: BabyScreen+ v0.1198 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1197 GJC2 Zornitza Stark Classified gene: GJC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1197 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1196 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1196 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Genomic newborn screening: BabyScreen+ v0.1196 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1196 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
Genomic newborn screening: BabyScreen+ v0.1195 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1194 GJB1 Zornitza Stark Classified gene: GJB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1194 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1193 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1193 GIF Zornitza Stark Marked gene: GIF as ready
Genomic newborn screening: BabyScreen+ v0.1193 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1193 GIF Zornitza Stark Phenotypes for gene: GIF were changed from Intrinsic factor deficiency, MIM# 261000; Intrinsic factor deficiency # 261000 to Intrinsic factor deficiency, MIM# 261000
Genomic newborn screening: BabyScreen+ v0.1192 GIF Zornitza Stark Publications for gene: GIF were set to
Genomic newborn screening: BabyScreen+ v0.1191 GIF Zornitza Stark Tag new gene name tag was added to gene: GIF.
Tag treatable tag was added to gene: GIF.
Tag haematological tag was added to gene: GIF.
Genomic newborn screening: BabyScreen+ v0.1191 GIF Zornitza Stark reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intrinsic factor deficiency MIM#261000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1191 SLC16A1 Zornitza Stark Mode of inheritance for gene: SLC16A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1190 SLC16A1 Zornitza Stark Tag metabolic tag was added to gene: SLC16A1.
Genomic newborn screening: BabyScreen+ v0.1190 SLC16A1 Zornitza Stark reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1190 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Genomic newborn screening: BabyScreen+ v0.1190 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1190 SLC13A5 Zornitza Stark reviewed gene: SLC13A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1190 SLC25A38 Zornitza Stark Tag treatable tag was added to gene: SLC25A38.
Tag haematological tag was added to gene: SLC25A38.
Genomic newborn screening: BabyScreen+ v0.1190 SLC25A20 Zornitza Stark Tag metabolic tag was added to gene: SLC25A20.
Genomic newborn screening: BabyScreen+ v0.1190 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Genomic newborn screening: BabyScreen+ v0.1190 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1190 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11A Zornitza Stark Tag treatable tag was added to gene: TNFRSF11A.
Tag skeletal tag was added to gene: TNFRSF11A.
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1189 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease to Paget disease of bone 5, juvenile-onset MIM#239000
Genomic newborn screening: BabyScreen+ v0.1188 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Genomic newborn screening: BabyScreen+ v0.1187 TNFRSF11B Zornitza Stark Classified gene: TNFRSF11B as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1187 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1186 TNFRSF11B Zornitza Stark Tag for review tag was added to gene: TNFRSF11B.
Tag skeletal tag was added to gene: TNFRSF11B.
Genomic newborn screening: BabyScreen+ v0.1186 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Genomic newborn screening: BabyScreen+ v0.1186 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1186 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 to Osteopetrosis, autosomal recessive 2 MIM#259710
Genomic newborn screening: BabyScreen+ v0.1185 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Genomic newborn screening: BabyScreen+ v0.1184 TNFSF11 Zornitza Stark Classified gene: TNFSF11 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1184 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1183 TNFSF11 Zornitza Stark Tag for review tag was added to gene: TNFSF11.
Tag skeletal tag was added to gene: TNFSF11.
Genomic newborn screening: BabyScreen+ v0.1183 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1183 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
Genomic newborn screening: BabyScreen+ v0.1183 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1183 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from Distal arthrogryposis syndrome 2b to Arthrogryposis, distal, type 2B1 MIM#601680
Genomic newborn screening: BabyScreen+ v0.1182 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
Genomic newborn screening: BabyScreen+ v0.1181 TNNI2 Zornitza Stark Classified gene: TNNI2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1181 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1180 TNNT1 Zornitza Stark Marked gene: TNNT1 as ready
Genomic newborn screening: BabyScreen+ v0.1180 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1180 TNNT1 Zornitza Stark Phenotypes for gene: TNNT1 were changed from Nemaline myopathy, Amish type to Nemaline myopathy 5, Amish type MIM#605355
Genomic newborn screening: BabyScreen+ v0.1179 TNNT1 Zornitza Stark Publications for gene: TNNT1 were set to
Genomic newborn screening: BabyScreen+ v0.1178 TNNT1 Zornitza Stark Classified gene: TNNT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1178 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1177 TNNT1 Zornitza Stark reviewed gene: TNNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1177 TNNT3 Zornitza Stark Marked gene: TNNT3 as ready
Genomic newborn screening: BabyScreen+ v0.1177 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1177 TNNT3 Zornitza Stark Phenotypes for gene: TNNT3 were changed from Arthyrgryposis, distal to Arthrogryposis, distal MIM#618435
Genomic newborn screening: BabyScreen+ v0.1176 TNNT3 Zornitza Stark Publications for gene: TNNT3 were set to
Genomic newborn screening: BabyScreen+ v0.1175 TNNT3 Zornitza Stark Classified gene: TNNT3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1175 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1174 TP53 Zornitza Stark Marked gene: TP53 as ready
Genomic newborn screening: BabyScreen+ v0.1174 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1174 TP53 Zornitza Stark Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome to Li-Fraumeni syndrome MIM#151623
Genomic newborn screening: BabyScreen+ v0.1173 TP53 Zornitza Stark Publications for gene: TP53 were set to
Genomic newborn screening: BabyScreen+ v0.1172 TP53 Zornitza Stark Tag for review tag was added to gene: TP53.
Tag cancer tag was added to gene: TP53.
Tag treatable tag was added to gene: TP53.
Genomic newborn screening: BabyScreen+ v0.1172 TPM2 Zornitza Stark Marked gene: TPM2 as ready
Genomic newborn screening: BabyScreen+ v0.1172 TPM2 Zornitza Stark Gene: tpm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1172 TPM2 Zornitza Stark Phenotypes for gene: TPM2 were changed from Nemaline myopathy; Arthrogryposis multiplex congenita, distal to Arthrgryposis MIM#108120; Nemaline myopathy MIM#609285
Genomic newborn screening: BabyScreen+ v0.1171 TPM2 Zornitza Stark Publications for gene: TPM2 were set to
Genomic newborn screening: BabyScreen+ v0.1170 TPM2 Zornitza Stark Classified gene: TPM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1170 TPM2 Zornitza Stark Gene: tpm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1169 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Genomic newborn screening: BabyScreen+ v0.1169 TPM3 Zornitza Stark Gene: tpm3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1169 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Nemaline myopathy; Congenital fiber-type disproportion myopathy to CAP myopathy 1, MIM# 609284; Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284
Genomic newborn screening: BabyScreen+ v0.1168 TPM3 Zornitza Stark Publications for gene: TPM3 were set to
Genomic newborn screening: BabyScreen+ v0.1167 TPM3 Zornitza Stark Classified gene: TPM3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1167 TPM3 Zornitza Stark Gene: tpm3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1166 SLC26A3 Seb Lunke Marked gene: SLC26A3 as ready
Genomic newborn screening: BabyScreen+ v0.1166 SLC26A3 Seb Lunke Gene: slc26a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1166 SLC26A3 Seb Lunke Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A3 Seb Lunke reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Tag for review tag was added to gene: SLC26A2.
Genomic newborn screening: BabyScreen+ v0.1165 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from Achondrogenesis 1B to Achondrogenesis 1B, MIM#600972
Genomic newborn screening: BabyScreen+ v0.1164 SLC26A2 Seb Lunke Classified gene: SLC26A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1164 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1163 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis 1B, MIM#600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1163 SLC25A4 Seb Lunke Marked gene: SLC25A4 as ready
Genomic newborn screening: BabyScreen+ v0.1163 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1163 SLC25A4 Seb Lunke Phenotypes for gene: SLC25A4 were changed from Progressive external ophthalmoplegia to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
Genomic newborn screening: BabyScreen+ v0.1162 SLC25A4 Seb Lunke Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1161 SLC25A4 Seb Lunke Classified gene: SLC25A4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1161 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1160 SLC25A4 Seb Lunke reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1160 SLC16A1 Seb Lunke Marked gene: SLC16A1 as ready
Genomic newborn screening: BabyScreen+ v0.1160 SLC16A1 Seb Lunke Gene: slc16a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1160 SLC16A1 Seb Lunke Publications for gene: SLC16A1 were set to
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Tag for review tag was added to gene: SLC16A1.
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Classified gene: SLC16A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1159 SLC16A1 Seb Lunke Gene: slc16a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1158 SLC16A1 Seb Lunke reviewed gene: SLC16A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301549; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1158 SLC13A5 Seb Lunke Classified gene: SLC13A5 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1158 SLC13A5 Seb Lunke Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1157 SLC13A5 Seb Lunke gene: SLC13A5 was added
gene: SLC13A5 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC13A5.
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 29895383
Phenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, neurological condition

Treatment: Ketogenic diet, stiripentol effective in one study of three related patients

Non-genetic confirmatory test: plasma and CSF citrate levels
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1156 SLC25A38 Seb Lunke Marked gene: SLC25A38 as ready
Genomic newborn screening: BabyScreen+ v0.1156 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1156 SLC25A38 Seb Lunke Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Marked gene: SLC25A20 as ready
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Gene: slc25a20 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1155 SLC25A20 Seb Lunke Publications for gene: SLC25A20 were set to
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Downie edited their review of gene: TNFRSF11A: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Downie changed review comment from: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
No treatment



NB AD phenotype has later onset; to: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
Treatment bone marrow transplant



NB AD phenotype has later onset
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Downie changed review comment from: Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment; to: Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11A Lilian Downie reviewed gene: TNFRSF11A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36031188, PMID: 35812760; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNFRSF11B Lilian Downie reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25108083, PMID: 34166796, PMID: 29080812; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Downie edited their review of gene: TNFSF11: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1154 TNFSF11 Lilian Downie reviewed gene: TNFSF11: Rating: ; Mode of pathogenicity: None; Publications: PMID:17632511, PMID: 36031188, PMID: 32940787; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNNI2 Lilian Downie reviewed gene: TNNI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34502093; Phenotypes: Arthrogryposis, distal, type 2B1 MIM#601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TNNT1 Lilian Downie reviewed gene: TNNT1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29931346, 10952871; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 TNNT3 Lilian Downie reviewed gene: TNNT3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19309503; Phenotypes: Arthrogryposis, distal MIM#618435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TP53 Lilian Downie reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28572266; Phenotypes: Li-Fraumeni syndrome MIM#151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TPM2 Lilian Downie reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27726070; Phenotypes: Arthrgryposis MIM#108120, Nemaline myopathy MIM#609285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 TPM3 Lilian Downie reviewed gene: TPM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26307083,PMID: 35668205; Phenotypes: Myopathy 255310, 609284, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1154 HCFC1 John Christodoulou reviewed gene: HCFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301503, PMID: 26893841, PMID: 35337626; Phenotypes: nonimmune hydrops, cardiomyopathy, intrauterine growth restriction, microcephaly, global dev delay, ID, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1154 HADH John Christodoulou reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16176262, PMID: 20936362; Phenotypes: hypoketotic hypoglycaemia, hyperinsulinism, fatty liver; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GYS2 John Christodoulou reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33489759; Phenotypes: fasting hypoglycaemia, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GUSB John Christodoulou reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31661765, PMID: 32063397; Phenotypes: facial dysmorphisms, skeletal deformities, cardiac valve involvement, ocular involvement, motor delay, developmental delay, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GRHPR John Christodoulou reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301742; Phenotypes: nephrolithiasis, haematuria, renal colic, obstruction of the urinary tract, Nephrocalcinosis, End-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GOT2 John Christodoulou reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31422819, PMID: 33990986; Phenotypes: neonatal hypotonia, feeding difficulties, global developmental delay, severe ID, infantile seizures, absent speech, spastic tetraplegia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GNS John Christodoulou reviewed gene: GNS: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31536183; Phenotypes: ID, Coarse facies, Thick hair and hirsutism, Hepatosplenomegaly, Joint stiffness, Hearing loss, Frequent upper-respiratory and ear infections, Inguinal and/or umbilical hernias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 GNPTG John Christodoulou reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301784; Phenotypes: Growth rate deceleration, Joint stiffness of the fingers, shoulders, and hips, Gradual mild coarsening of facial features, Genu valgum, scoliosis, hyperlordosis, mitral valve thickening; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1153 SLC25A19 Zornitza Stark Tag for review was removed from gene: SLC25A19.
Tag treatable tag was added to gene: SLC25A19.
Tag metabolic tag was added to gene: SLC25A19.
Genomic newborn screening: BabyScreen+ v0.1153 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1153 SLC18A2 Zornitza Stark Tag for review was removed from gene: SLC18A2.
Tag treatable tag was added to gene: SLC18A2.
Tag neurological tag was added to gene: SLC18A2.
Genomic newborn screening: BabyScreen+ v0.1153 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Genomic newborn screening: BabyScreen+ v0.1152 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1152 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A13 Zornitza Stark Tag metabolic tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1151 TSHR Zornitza Stark Tag for review was removed from gene: TSHR.
Tag treatable tag was added to gene: TSHR.
Tag endocrine tag was added to gene: TSHR.
Genomic newborn screening: BabyScreen+ v0.1151 TSHR Zornitza Stark reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1151 COL11A1 Zornitza Stark Tag for review was removed from gene: COL11A1.
Tag ophthalmological tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.1151 COL11A1 Zornitza Stark changed review comment from: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.

There is some genotype-phenotype correlation.

Treatment: ocular surveillance and surgery to prevent retinal detachment

For review; to: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.

There is some genotype-phenotype correlation.

Treatment: ocular surveillance and surgery to prevent retinal detachment. Usually after age 2-3 years.

Discussed with ophthalmology: would start glaucoma surveillance in first year of life.
Genomic newborn screening: BabyScreen+ v0.1151 COL2A1 Zornitza Stark changed review comment from: Variants in this gene are associated with a range of skeletal phenotypes.

Onset and severity can be variable.

Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment.

For review.; to: Variants in this gene are associated with a range of skeletal phenotypes.

Onset and severity can be variable.

Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. This is usually after the age of 2-3 years.

Discussed with ophthalmology, would start glaucoma surveillance in the first year of life.
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A15 Seb Lunke Marked gene: SLC25A15 as ready
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A15 Seb Lunke Gene: slc25a15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1151 SLC25A15 Seb Lunke Publications for gene: SLC25A15 were set to
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A15 Seb Lunke reviewed gene: SLC25A15: Rating: ; Mode of pathogenicity: None; Publications: 22649802; Phenotypes: Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A13 Seb Lunke Marked gene: SLC25A13 as ready
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1150 SLC25A13 Seb Lunke Phenotypes for gene: SLC25A13 were changed from Citrullinemia, MIM#605814 to Citrullinemia, type II, neonatal-onset, MIM# 605814
Genomic newborn screening: BabyScreen+ v0.1149 SLC25A13 Seb Lunke Classified gene: SLC25A13 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1149 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A13 Seb Lunke Tag for review tag was added to gene: SLC25A13.
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A13 Seb Lunke reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301360; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1148 SLC25A19 Seb Lunke gene: SLC25A19 was added
gene: SLC25A19 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC25A19.
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 31095747
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Review for gene: SLC25A19 was set to AMBER
Added comment: Established gene-disease association.

Onset of acute encephalopathic attacks in childhood (3 to 7 years) often after febrile illness, full recovery after attacks. Onset of chronic progressive polyneuropathy in late childhood.

Treatment: 5 patients treated with thiamine supplementation, which led to a substantial improvement in peripheral neuropathy and gait in early treated patients

Non-genetic confirmatory test: No
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.1147 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Genomic newborn screening: BabyScreen+ v0.1147 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1147 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Genomic newborn screening: BabyScreen+ v0.1146 HAX1 Zornitza Stark Tag treatable tag was added to gene: HAX1.
Tag haematological tag was added to gene: HAX1.
Genomic newborn screening: BabyScreen+ v0.1146 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1146 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Genomic newborn screening: BabyScreen+ v0.1146 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1146 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome; autosomal recessive sensorineural hearing loss to Perrault syndrome 2, MIM# 614926
Genomic newborn screening: BabyScreen+ v0.1145 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1145 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1144 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1144 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Genomic newborn screening: BabyScreen+ v0.1144 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1144 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Genomic newborn screening: BabyScreen+ v0.1143 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Genomic newborn screening: BabyScreen+ v0.1142 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1142 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark Gene: trex1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1141 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1 to Aicardi-Goutieres syndrome 1 MIM#225750
Genomic newborn screening: BabyScreen+ v0.1140 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Genomic newborn screening: BabyScreen+ v0.1139 TREX1 Zornitza Stark Classified gene: TREX1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1139 TREX1 Zornitza Stark Gene: trex1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1138 TREX1 Zornitza Stark Tag for review tag was added to gene: TREX1.
Tag treatable tag was added to gene: TREX1.
Tag neurological tag was added to gene: TREX1.
Genomic newborn screening: BabyScreen+ v0.1138 TPP1 Zornitza Stark Tag for review tag was added to gene: TPP1.
Tag treatable tag was added to gene: TPP1.
Tag metabolic tag was added to gene: TPP1.
Genomic newborn screening: BabyScreen+ v0.1138 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
Genomic newborn screening: BabyScreen+ v0.1138 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1138 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda to Spondyloepiphyseal dysplasia tarda MIM#313400
Genomic newborn screening: BabyScreen+ v0.1137 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
Genomic newborn screening: BabyScreen+ v0.1136 TRAPPC2 Zornitza Stark Classified gene: TRAPPC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1136 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1135 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Genomic newborn screening: BabyScreen+ v0.1135 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1135 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)
Genomic newborn screening: BabyScreen+ v0.1134 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Genomic newborn screening: BabyScreen+ v0.1133 TPO Zornitza Stark Marked gene: TPO as ready
Genomic newborn screening: BabyScreen+ v0.1133 TPO Zornitza Stark Gene: tpo has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1133 TPO Zornitza Stark Phenotypes for gene: TPO were changed from Thyroid dyshormonogenesis 2A to Thyroid dyshormonogenesis 2A MIM#274500
Genomic newborn screening: BabyScreen+ v0.1132 TPO Zornitza Stark Tag treatable tag was added to gene: TPO.
Tag endocrine tag was added to gene: TPO.
Genomic newborn screening: BabyScreen+ v0.1132 HADH Zornitza Stark Marked gene: HADH as ready
Genomic newborn screening: BabyScreen+ v0.1132 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1132 HADH Zornitza Stark Phenotypes for gene: HADH were changed from Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Genomic newborn screening: BabyScreen+ v0.1131 HADH Zornitza Stark Tag treatable tag was added to gene: HADH.
Tag metabolic tag was added to gene: HADH.
Genomic newborn screening: BabyScreen+ v0.1131 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark Tag treatable tag was added to gene: GOT2.
Tag neurological tag was added to gene: GOT2.
Genomic newborn screening: BabyScreen+ v0.1131 GOT2 Zornitza Stark reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 82, MIM# 618721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1131 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Genomic newborn screening: BabyScreen+ v0.1130 GPC3 Zornitza Stark Classified gene: GPC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1130 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1129 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1129 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Genomic newborn screening: BabyScreen+ v0.1129 GPR143 Zornitza Stark Gene: gpr143 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1129 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from Ocular albinism, type I to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
Genomic newborn screening: BabyScreen+ v0.1128 GPR143 Zornitza Stark Classified gene: GPR143 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1128 GPR143 Zornitza Stark Gene: gpr143 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1127 GPR143 Zornitza Stark reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1127 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Genomic newborn screening: BabyScreen+ v0.1127 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1127 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome MIM#604213
Genomic newborn screening: BabyScreen+ v0.1126 GPSM2 Zornitza Stark Classified gene: GPSM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1126 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1125 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1125 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Genomic newborn screening: BabyScreen+ v0.1125 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1125 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Autosomal dominant hearing loss, MIM# 608641 to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641
Genomic newborn screening: BabyScreen+ v0.1124 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1123 GRHL2 Zornitza Stark Classified gene: GRHL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1123 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1122 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1122 GRHPR Zornitza Stark Phenotypes for gene: GRHPR were changed from Hyperoxaluria, primary, type II to Hyperoxaluria, primary, type II, MIM# 260000
Genomic newborn screening: BabyScreen+ v0.1121 TPO Lilian Downie reviewed gene: TPO: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15863666; Phenotypes: Thyroid dyshormonogenesis 2A MIM#274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 TPP1 Lilian Downie reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32684372, PMID: 31884868, PMID: 30470609, PMID: 33882967; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 TRAPPC2 Lilian Downie reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301324; Phenotypes: Spondyloepiphyseal dysplasia tarda MIM#313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1121 TREX1 Lilian Downie reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301648, PMID: 32877590; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 TRIM32 Lilian Downie reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21496629, PMID: 23142638; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark Marked gene: GRHPR as ready
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark Tag treatable tag was added to gene: GRHPR.
Tag clinical trial tag was added to gene: GRHPR.
Tag metabolic tag was added to gene: GRHPR.
Genomic newborn screening: BabyScreen+ v0.1121 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II, MIM# 260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark edited their review of gene: GRXCR1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1121 GRXCR1 Zornitza Stark reviewed gene: GRXCR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1121 GSS Zornitza Stark Marked gene: GSS as ready
Genomic newborn screening: BabyScreen+ v0.1121 GSS Zornitza Stark Gene: gss has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1121 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency to Glutathione synthetase deficiency, MIM# 266130; Haemolytic anemia due to glutathione synthetase deficiency 231900
Genomic newborn screening: BabyScreen+ v0.1120 GSS Zornitza Stark Classified gene: GSS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1120 GSS Zornitza Stark Gene: gss has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1119 GSS Zornitza Stark reviewed gene: GSS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1119 GUSB Zornitza Stark Marked gene: GUSB as ready
Genomic newborn screening: BabyScreen+ v0.1119 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Marked gene: GCM2 as ready
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Classified gene: GCM2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1119 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1118 GCM2 Zornitza Stark gene: GCM2 was added
gene: GCM2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to 27745835; 20190276; 34967908; 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Review for gene: GCM2 was set to GREEN
Added comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism.

Variable age of onset.

Treatment for hypoPTH: calcium carbonate, calcitriol. HyperPTH: surgery?

Non-genetic confirmatory tests: calcium, phosphate, parathyroid hormone
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1117 GUSB Zornitza Stark Tag for review tag was added to gene: GUSB.
Tag treatable tag was added to gene: GUSB.
Tag metabolic tag was added to gene: GUSB.
Genomic newborn screening: BabyScreen+ v0.1117 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1117 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Genomic newborn screening: BabyScreen+ v0.1117 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1117 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from Glycogen storage disease 0 to Glycogen storage disease 0, liver (MIM#240600)
Genomic newborn screening: BabyScreen+ v0.1116 GYS2 Zornitza Stark Tag metabolic tag was added to gene: GYS2.
Genomic newborn screening: BabyScreen+ v0.1116 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1116 GYS2 Zornitza Stark Tag treatable tag was added to gene: GYS2.
Genomic newborn screening: BabyScreen+ v0.1116 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Genomic newborn screening: BabyScreen+ v0.1116 GNPTAB Zornitza Stark Gene: gnptab has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1116 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from Mucolipidosis II to Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931
Genomic newborn screening: BabyScreen+ v0.1115 GNPTAB Zornitza Stark Classified gene: GNPTAB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1115 GNPTAB Zornitza Stark Gene: gnptab has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1114 GNPTAB Zornitza Stark edited their review of gene: GNPTAB: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1114 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Marked gene: GNE as ready
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Added comment: Comment when marking as ready: Check age of onset with neurology.
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1114 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy to Nonaka myopathy, MIM# 605820
Genomic newborn screening: BabyScreen+ v0.1113 GNE Zornitza Stark Tag for review tag was added to gene: GNE.
Tag neurological tag was added to gene: GNE.
Genomic newborn screening: BabyScreen+ v0.1113 GNE Zornitza Stark Classified gene: GNE as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1113 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1112 GNE Zornitza Stark Classified gene: GNE as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1112 GNE Zornitza Stark Gene: gne has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1111 GNE Zornitza Stark reviewed gene: GNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy, MIM# 605820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1111 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Genomic newborn screening: BabyScreen+ v0.1111 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1111 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Genomic newborn screening: BabyScreen+ v0.1110 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1109 GJA1 Zornitza Stark Classified gene: GJA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1109 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1108 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Marked gene: GIPC3 as ready
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Gene: gipc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1108 GIPC3 Zornitza Stark Phenotypes for gene: GIPC3 were changed from Hearing loss to Deafness, autosomal recessive 15, MIM# 601869
Genomic newborn screening: BabyScreen+ v0.1107 GIPC3 Zornitza Stark reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1107 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Genomic newborn screening: BabyScreen+ v0.1107 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1107 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510
Genomic newborn screening: BabyScreen+ v0.1106 GLI3 Zornitza Stark Classified gene: GLI3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1106 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1105 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1105 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
Genomic newborn screening: BabyScreen+ v0.1105 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1105 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from Crisponi syndrome to Cold-induced sweating syndrome 1, MIM# 272430
Genomic newborn screening: BabyScreen+ v0.1104 CRLF1 Zornitza Stark Classified gene: CRLF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1104 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1103 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM# 272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Zornitza Stark Tag neurological tag was added to gene: SLC25A1.
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A3 Zornitza Stark Tag treatable tag was added to gene: SLC19A3.
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1103 SLC19A2 Zornitza Stark Tag treatable tag was added to gene: SLC19A2.
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Seb Lunke Marked gene: SLC25A1 as ready
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1103 SLC25A1 Seb Lunke Publications for gene: SLC25A1 were set to
Genomic newborn screening: BabyScreen+ v0.1102 SLC25A1 Seb Lunke Classified gene: SLC25A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1102 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1101 SLC25A1 Seb Lunke Tag for review tag was added to gene: SLC25A1.
Genomic newborn screening: BabyScreen+ v0.1101 SLC25A1 Seb Lunke reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1101 SLC22A5 Seb Lunke Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, MIM#212140 to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
Genomic newborn screening: BabyScreen+ v0.1100 SLC22A5 Seb Lunke Publications for gene: SLC22A5 were set to
Genomic newborn screening: BabyScreen+ v0.1099 SLC22A5 Seb Lunke reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1099 SLC19A3 Seb Lunke Marked gene: SLC19A3 as ready
Genomic newborn screening: BabyScreen+ v0.1099 SLC19A3 Seb Lunke Gene: slc19a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1099 SLC19A3 Seb Lunke Phenotypes for gene: SLC19A3 were changed from Basal ganglia disease, biotin-responsive, MIM#607483 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Genomic newborn screening: BabyScreen+ v0.1098 SLC19A3 Seb Lunke Publications for gene: SLC19A3 were set to
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A3 Seb Lunke reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24260777; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A2 Seb Lunke Marked gene: SLC19A2 as ready
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A2 Seb Lunke Gene: slc19a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1097 SLC19A2 Seb Lunke Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Genomic newborn screening: BabyScreen+ v0.1096 SLC19A2 Seb Lunke Publications for gene: SLC19A2 were set to
Genomic newborn screening: BabyScreen+ v0.1095 SLC19A2 Seb Lunke reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301459; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Marked gene: SLC18A3 as ready
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Gene: slc18a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1095 SLC18A3 Seb Lunke Publications for gene: SLC18A3 were set to
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset neurological condition.

Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children.

Non-genetic confirmatory test: blood pressure measurement and sodium, potassium, aldosterone, renin levels; to: Established gene-disease association.

Childhood onset neurological condition.

Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children.

Non-genetic confirmatory test: whole blood serotonin level
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A3 Seb Lunke reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Marked gene: SLC18A2 as ready
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Added comment: Comment when marking as ready: Is evidence for treatment sufficient?
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Gene: slc18a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke Tag for review tag was added to gene: SLC18A2.
Genomic newborn screening: BabyScreen+ v0.1094 SLC18A2 Seb Lunke reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1094 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Genomic newborn screening: BabyScreen+ v0.1094 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1094 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, MIM#300867
Genomic newborn screening: BabyScreen+ v0.1093 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1092 KDM6A Zornitza Stark Classified gene: KDM6A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1092 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1091 KDM6A Zornitza Stark reviewed gene: KDM6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1091 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Genomic newborn screening: BabyScreen+ v0.1091 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1091 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700
Genomic newborn screening: BabyScreen+ v0.1090 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital to Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital
Genomic newborn screening: BabyScreen+ v0.1089 KIF21A Zornitza Stark Classified gene: KIF21A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1089 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1088 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1088 KIT Zornitza Stark Marked gene: KIT as ready
Genomic newborn screening: BabyScreen+ v0.1088 KIT Zornitza Stark Gene: kit has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1088 KIT Zornitza Stark Phenotypes for gene: KIT were changed from Piebaldism to Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764
Genomic newborn screening: BabyScreen+ v0.1087 KIT Zornitza Stark Classified gene: KIT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1087 KIT Zornitza Stark Gene: kit has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1086 KIT Zornitza Stark reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1086 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Genomic newborn screening: BabyScreen+ v0.1086 KLF1 Zornitza Stark Gene: klf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1086 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
Genomic newborn screening: BabyScreen+ v0.1085 KLF1 Zornitza Stark Classified gene: KLF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1085 KLF1 Zornitza Stark Gene: klf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1084 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1084 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Genomic newborn screening: BabyScreen+ v0.1084 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1084 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from Nemaline myopathy to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Genomic newborn screening: BabyScreen+ v0.1083 KLHL40 Zornitza Stark Classified gene: KLHL40 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1083 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1082 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1082 KLHL41 Zornitza Stark Marked gene: KLHL41 as ready
Genomic newborn screening: BabyScreen+ v0.1082 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1082 KLHL41 Zornitza Stark Phenotypes for gene: KLHL41 were changed from Nemaline myopathy to Nemaline myopathy 9, MIM# 615731
Genomic newborn screening: BabyScreen+ v0.1081 KLHL41 Zornitza Stark Classified gene: KLHL41 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1081 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1080 KLHL41 Zornitza Stark reviewed gene: KLHL41: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1080 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Genomic newborn screening: BabyScreen+ v0.1080 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1080 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Genomic newborn screening: BabyScreen+ v0.1079 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1078 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1078 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1077 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1077 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Genomic newborn screening: BabyScreen+ v0.1077 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1077 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, MIM# 147920
Genomic newborn screening: BabyScreen+ v0.1076 KMT2D Zornitza Stark Classified gene: KMT2D as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1076 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1075 KMT2D Zornitza Stark commented on gene: KMT2D: Well established gene-disease association.

Congenital onset, multi-system disorder.

No specific treatment.
Genomic newborn screening: BabyScreen+ v0.1075 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1075 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Genomic newborn screening: BabyScreen+ v0.1075 KRT14 Zornitza Stark Gene: krt14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1075 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Genomic newborn screening: BabyScreen+ v0.1074 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1073 KRT14 Zornitza Stark Classified gene: KRT14 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1073 KRT14 Zornitza Stark Gene: krt14 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1072 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1072 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Genomic newborn screening: BabyScreen+ v0.1072 KRT16 Zornitza Stark Gene: krt16 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1072 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from Pachyonychia congenita to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)
Genomic newborn screening: BabyScreen+ v0.1071 KRT16 Zornitza Stark Classified gene: KRT16 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1071 KRT16 Zornitza Stark Gene: krt16 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1070 KRT16 Zornitza Stark reviewed gene: KRT16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1070 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Genomic newborn screening: BabyScreen+ v0.1070 KRT17 Zornitza Stark Gene: krt17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1070 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from Pachyonychia congenita to Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500
Genomic newborn screening: BabyScreen+ v0.1069 KRT17 Zornitza Stark Classified gene: KRT17 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1069 KRT17 Zornitza Stark Gene: krt17 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1068 KRT17 Zornitza Stark reviewed gene: KRT17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1068 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Genomic newborn screening: BabyScreen+ v0.1068 KRT5 Zornitza Stark Gene: krt5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1068 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Genomic newborn screening: BabyScreen+ v0.1067 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1066 KRT5 Zornitza Stark Classified gene: KRT5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1066 KRT5 Zornitza Stark Gene: krt5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1065 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dowling-Degos disease 1, MIM# 179850, Epidermolysis bullosa simplex-MCR, MIM# 609352, Epidermolysis bullosa simplex-MP 131960, Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760, Epidermolysis bullosa simplex, Koebner type, MIM# 131900, Epidermolysis bullosa simplex, recessive 1, MIM# 601001, Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1065 KRT6A Zornitza Stark Marked gene: KRT6A as ready
Genomic newborn screening: BabyScreen+ v0.1065 KRT6A Zornitza Stark Gene: krt6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1065 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from Pachyonychia congenita to Pachyonychia congenita 3 (MIM#615726)
Genomic newborn screening: BabyScreen+ v0.1064 KRT6A Zornitza Stark Classified gene: KRT6A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1064 KRT6A Zornitza Stark Gene: krt6a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1063 KRT6A Zornitza Stark reviewed gene: KRT6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1063 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Genomic newborn screening: BabyScreen+ v0.1063 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1063 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome to Noonan syndrome 1, MIM# 163950
Genomic newborn screening: BabyScreen+ v0.1062 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1062 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1061 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1061 KRAS Zornitza Stark Marked gene: KRAS as ready
Genomic newborn screening: BabyScreen+ v0.1061 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1061 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from Noonan syndrome to Cardiofaciocutaneous syndrome 2, MIM# 615278; Noonan syndrome 3, MIM# 609942
Genomic newborn screening: BabyScreen+ v0.1060 KRAS Zornitza Stark Classified gene: KRAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1060 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1059 KRAS Zornitza Stark reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome 2, MIM# 615278, Noonan syndrome 3, MIM# 609942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1059 HRAS Zornitza Stark Marked gene: HRAS as ready
Genomic newborn screening: BabyScreen+ v0.1059 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1059 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, MIM# 218040
Genomic newborn screening: BabyScreen+ v0.1058 HRAS Zornitza Stark Classified gene: HRAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1058 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1057 HRAS Zornitza Stark reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1057 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Genomic newborn screening: BabyScreen+ v0.1057 HINT1 Zornitza Stark Gene: hint1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1057 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from Axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646
Genomic newborn screening: BabyScreen+ v0.1056 HINT1 Zornitza Stark Classified gene: HINT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1056 HINT1 Zornitza Stark Gene: hint1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1055 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1055 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Genomic newborn screening: BabyScreen+ v0.1055 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1055 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from Hypomyelination and congenital cataract to Hypomyelinating leukodystrophy 5 MONDO:0012514
Genomic newborn screening: BabyScreen+ v0.1054 FAM126A Zornitza Stark Classified gene: FAM126A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1054 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1053 FAM126A Zornitza Stark reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1053 AMN Zornitza Stark Tag haematological tag was added to gene: AMN.
Genomic newborn screening: BabyScreen+ v0.1053 ALPL Zornitza Stark Tag skeletal tag was added to gene: ALPL.
Genomic newborn screening: BabyScreen+ v0.1053 ALDOB Zornitza Stark Tag metabolic tag was added to gene: ALDOB.
Genomic newborn screening: BabyScreen+ v0.1053 ALDH7A1 Zornitza Stark Tag metabolic tag was added to gene: ALDH7A1.
Genomic newborn screening: BabyScreen+ v0.1053 AKR1D1 Zornitza Stark Tag GI tag was added to gene: AKR1D1.
Genomic newborn screening: BabyScreen+ v0.1053 AK2 Zornitza Stark Tag haematological tag was added to gene: AK2.
Genomic newborn screening: BabyScreen+ v0.1053 AIRE Zornitza Stark Tag endocrine tag was added to gene: AIRE.
Genomic newborn screening: BabyScreen+ v0.1053 AHCY Zornitza Stark Tag metabolic tag was added to gene: AHCY.
Genomic newborn screening: BabyScreen+ v0.1053 AGXT Zornitza Stark Tag metabolic tag was added to gene: AGXT.
Genomic newborn screening: BabyScreen+ v0.1053 AGRN Zornitza Stark Tag neurological tag was added to gene: AGRN.
Genomic newborn screening: BabyScreen+ v0.1053 AGL Zornitza Stark Tag treatable tag was added to gene: AGL.
Tag metabolic tag was added to gene: AGL.
Genomic newborn screening: BabyScreen+ v0.1053 ADGRV1 Zornitza Stark Tag deafness tag was added to gene: ADGRV1.
Genomic newborn screening: BabyScreen+ v0.1053 ADAMTS13 Zornitza Stark Tag haematological tag was added to gene: ADAMTS13.
Genomic newborn screening: BabyScreen+ v0.1053 ADA Zornitza Stark Tag immunological tag was added to gene: ADA.
Genomic newborn screening: BabyScreen+ v0.1053 ACAT1 Zornitza Stark Tag metabolic tag was added to gene: ACAT1.
Genomic newborn screening: BabyScreen+ v0.1053 ACADVL Zornitza Stark Tag metabolic tag was added to gene: ACADVL.
Genomic newborn screening: BabyScreen+ v0.1053 ACADM Zornitza Stark Tag metabolic tag was added to gene: ACADM.
Genomic newborn screening: BabyScreen+ v0.1053 ACAD9 Zornitza Stark Tag metabolic tag was added to gene: ACAD9.
Genomic newborn screening: BabyScreen+ v0.1053 ABCG5 Zornitza Stark Tag metabolic tag was added to gene: ABCG5.
Genomic newborn screening: BabyScreen+ v0.1053 ABCD1 Zornitza Stark Tag metabolic tag was added to gene: ABCD1.
Genomic newborn screening: BabyScreen+ v0.1053 AAAS Zornitza Stark Tag treatable tag was added to gene: AAAS.
Tag endocrine tag was added to gene: AAAS.
Genomic newborn screening: BabyScreen+ v0.1053 APRT Zornitza Stark Tag for review was removed from gene: APRT.
Genomic newborn screening: BabyScreen+ v0.1053 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to
Genomic newborn screening: BabyScreen+ v0.1052 ATP2B2 Zornitza Stark Tag for review was removed from gene: ATP2B2.
Genomic newborn screening: BabyScreen+ v0.1052 BMPR1A Zornitza Stark Tag for review was removed from gene: BMPR1A.
Genomic newborn screening: BabyScreen+ v0.1052 BMPR1A Zornitza Stark changed review comment from: Well established gene-disease association.

Polyposis: onset in childhood although cancer onset tends to be in adulthood.

For review.; to: Well established gene-disease association.

Polyposis: onset in childhood although cancer onset tends to be in adulthood.

Screening typically starts in adolescence.
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Tag cardiac tag was added to gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Classified gene: CASQ2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1052 CASQ2 Zornitza Stark Gene: casq2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1051 DDB2 Zornitza Stark Tag for review was removed from gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.1051 DDB2 Zornitza Stark changed review comment from: Established gene-disease association.

Range of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.

Treatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For review re age of onset.; to: Established gene-disease association.

Range of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.

Treatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

Genomic newborn screening: BabyScreen+ v0.1051 EMD Zornitza Stark Tag for review was removed from gene: EMD.
Genomic newborn screening: BabyScreen+ v0.1051 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.1051 UROD Zornitza Stark Tag for review was removed from gene: UROD.
Genomic newborn screening: BabyScreen+ v0.1051 ERCC5 Zornitza Stark Tag for review was removed from gene: ERCC5.
Genomic newborn screening: BabyScreen+ v0.1051 ERCC5 Zornitza Stark changed review comment from: Bi-allelic variants cause a range of DNA repair disorders.

Variable severity and age of onset of manifestations.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For discussion.; to: Bi-allelic variants cause a range of DNA repair disorders.

Variable severity and age of onset of manifestations.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

Genomic newborn screening: BabyScreen+ v0.1051 TSC1 Zornitza Stark Classified gene: TSC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1051 TSC1 Zornitza Stark Gene: tsc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1050 TSC1 Zornitza Stark Tag for review was removed from gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.1050 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1050 TSC2 Zornitza Stark Classified gene: TSC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1050 TSC2 Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark Tag for review was removed from gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark changed review comment from: Treatment is largely symptomatic.; to: Treatment is symptomatic.
Genomic newborn screening: BabyScreen+ v0.1049 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1049 TTC7A Zornitza Stark Classified gene: TTC7A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1049 TTC7A Zornitza Stark Gene: ttc7a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1048 TTC7A Zornitza Stark Tag for review was removed from gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.1048 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1048 ERCC2 Zornitza Stark Classified gene: ERCC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1048 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark Tag for review was removed from gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark edited their review of gene: ERCC2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1047 ERCC2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause a range of conditions, including COFS, trichothiodystrophy and XPE.

DNA repair disorder.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For discussion.; to: Bi-allelic variants in this gene cause a range of conditions, including COFS, trichothiodystrophy and XPE.

DNA repair disorder.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
Genomic newborn screening: BabyScreen+ v0.1047 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200; HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM
Genomic newborn screening: BabyScreen+ v0.1046 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1045 FLCN Zornitza Stark Tag for review was removed from gene: FLCN.
Genomic newborn screening: BabyScreen+ v0.1045 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1045 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1044 FBN1 Zornitza Stark edited their review of gene: FBN1: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1044 FGFR3 Zornitza Stark Tag clinical trial tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1044 FAM161A Zornitza Stark Marked gene: FAM161A as ready
Genomic newborn screening: BabyScreen+ v0.1044 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1044 FAM161A Zornitza Stark Phenotypes for gene: FAM161A were changed from Retinal dystrophy to Retinitis pigmentosa 28, 606068
Genomic newborn screening: BabyScreen+ v0.1043 FAM161A Zornitza Stark Classified gene: FAM161A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1043 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1042 FAM161A Zornitza Stark reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, 606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1042 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Genomic newborn screening: BabyScreen+ v0.1042 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1042 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Osteosclerotic bone dysplasia to Raine syndrome, MIM# 259775
Genomic newborn screening: BabyScreen+ v0.1041 FAM20C Zornitza Stark Classified gene: FAM20C as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1041 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1040 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Raine syndrome, MIM# 259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1040 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Genomic newborn screening: BabyScreen+ v0.1040 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Genomic newborn screening: BabyScreen+ v0.1040 FAM58A Zornitza Stark Gene: fam58a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1040 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from Syndactyly - telecanthus - anogenital and renal malformations to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
Genomic newborn screening: BabyScreen+ v0.1039 FAM58A Zornitza Stark Classified gene: FAM58A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1039 FAM58A Zornitza Stark Gene: fam58a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1038 FAM58A Zornitza Stark reviewed gene: FAM58A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other
Genomic newborn screening: BabyScreen+ v0.1038 FANCA Zornitza Stark Marked gene: FANCA as ready
Genomic newborn screening: BabyScreen+ v0.1038 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1038 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from Fanconi anaemia, MIM#227650 to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Genomic newborn screening: BabyScreen+ v0.1037 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1037 FANCB Zornitza Stark Marked gene: FANCB as ready
Genomic newborn screening: BabyScreen+ v0.1037 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1037 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anaemia, MIM#300514 to Fanconi anaemia, complementation group B, MIM# 300514
Genomic newborn screening: BabyScreen+ v0.1036 FANCB Zornitza Stark Tag treatable tag was added to gene: FANCB.
Genomic newborn screening: BabyScreen+ v0.1036 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1036 FANCC Zornitza Stark Marked gene: FANCC as ready
Genomic newborn screening: BabyScreen+ v0.1036 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1036 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from Fanconi anaemia, MIM#227645 to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Genomic newborn screening: BabyScreen+ v0.1035 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1035 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Genomic newborn screening: BabyScreen+ v0.1035 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1035 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, MIM#227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Genomic newborn screening: BabyScreen+ v0.1034 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Marked gene: FANCG as ready
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark Tag treatable tag was added to gene: FANCG.
Genomic newborn screening: BabyScreen+ v0.1034 FANCG Zornitza Stark reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group G, MIM# 614082, MONDO:0013565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Marked gene: FANCI as ready
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark Tag treatable tag was added to gene: FANCI.
Genomic newborn screening: BabyScreen+ v0.1034 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Marked gene: FAS as ready
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Gene: fas has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Classified gene: FAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1034 FAS Zornitza Stark Gene: fas has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1033 FAS Zornitza Stark reviewed gene: FAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1033 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Genomic newborn screening: BabyScreen+ v0.1033 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1033 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome to Marfan syndrome, MIM# 154700
Genomic newborn screening: BabyScreen+ v0.1032 FBN1 Zornitza Stark Classified gene: FBN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1032 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1031 FBN1 Zornitza Stark Tag for review tag was added to gene: FBN1.
Genomic newborn screening: BabyScreen+ v0.1031 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1031 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Genomic newborn screening: BabyScreen+ v0.1031 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1031 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400
Genomic newborn screening: BabyScreen+ v0.1030 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1029 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1028 GDAP1 Zornitza Stark Classified gene: GDAP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1028 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark Tag treatable tag was added to gene: FERMT3.
Genomic newborn screening: BabyScreen+ v0.1027 FERMT3 Zornitza Stark reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1027 FGA Zornitza Stark Marked gene: FGA as ready
Genomic newborn screening: BabyScreen+ v0.1027 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1027 FGA Zornitza Stark Phenotypes for gene: FGA were changed from Afibrinogenaemia to Afibrinogenemia, congenital (MIM#202400)
Genomic newborn screening: BabyScreen+ v0.1026 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1026 FGB Zornitza Stark Marked gene: FGB as ready
Genomic newborn screening: BabyScreen+ v0.1026 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1026 FGB Zornitza Stark Phenotypes for gene: FGB were changed from Afibrinogenaemia to Afibrinogenaemia, congenital, MIM# 202400
Genomic newborn screening: BabyScreen+ v0.1025 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1025 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Genomic newborn screening: BabyScreen+ v0.1025 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1025 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from Aarskog-Scott syndrome to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400
Genomic newborn screening: BabyScreen+ v0.1024 FGD1 Zornitza Stark Classified gene: FGD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1024 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1023 FGD1 Zornitza Stark reviewed gene: FGD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aarskog-Scott syndrome, MIM # 305400, Mental retardation, X-linked syndromic 16, MIM# 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1023 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Genomic newborn screening: BabyScreen+ v0.1023 FGD4 Zornitza Stark Gene: fgd4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1023 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, type 4H, MIM#609311
Genomic newborn screening: BabyScreen+ v0.1022 FGD4 Zornitza Stark Classified gene: FGD4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1022 FGD4 Zornitza Stark Gene: fgd4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1021 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 4H, MIM#609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1021 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Genomic newborn screening: BabyScreen+ v0.1021 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1021 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontia to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706
Genomic newborn screening: BabyScreen+ v0.1020 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Classified gene: FBN2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1020 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1019 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1019 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria to Hypophosphatemic rickets with hypercalciuria, MIM#241530
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark Tag treatable tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1018 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1018 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Genomic newborn screening: BabyScreen+ v0.1018 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1018 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from Kallmann syndrome to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Genomic newborn screening: BabyScreen+ v0.1017 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1017 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1016 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1016 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Genomic newborn screening: BabyScreen+ v0.1016 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1016 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410; Apert syndrome, MIM# 101200; Beare-Stevenson cutis gyrata syndrome, MIM# 123790; Bent bone dysplasia syndrome, MIM# 614592; Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600; Crouzon syndrome , MIM#123500; Jackson-Weiss syndrome,MIM# 123150; LADD syndrome, MIM# 149730; Pfeiffer syndrome,MIM# 101600; Saethre-Chotzen syndrome 101400
Genomic newborn screening: BabyScreen+ v0.1015 FGFR2 Zornitza Stark Classified gene: FGFR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1015 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1014 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592, Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600, Crouzon syndrome , MIM#123500, Jackson-Weiss syndrome,MIM# 123150, LADD syndrome, MIM# 149730, Pfeiffer syndrome,MIM# 101600, Saethre-Chotzen syndrome 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1014 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Genomic newborn screening: BabyScreen+ v0.1014 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1014 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome to Achondroplasia MONDO:0007037
Genomic newborn screening: BabyScreen+ v0.1013 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
Genomic newborn screening: BabyScreen+ v0.1012 FGFR3 Zornitza Stark Tag for review tag was added to gene: FGFR3.
Tag treatable tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1012 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34341520, 31269546; Phenotypes: Achondroplasia MONDO:0007037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1012 FGG Zornitza Stark Marked gene: FGG as ready
Genomic newborn screening: BabyScreen+ v0.1012 FGG Zornitza Stark Gene: fgg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1012 FGG Zornitza Stark Phenotypes for gene: FGG were changed from Afibrinogenaemia to Afibrinogenemia, congenital, MIM# 202400
Genomic newborn screening: BabyScreen+ v0.1011 FGG Zornitza Stark Tag treatable tag was added to gene: FGG.
Genomic newborn screening: BabyScreen+ v0.1011 FGG Zornitza Stark reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1011 FKRP Zornitza Stark Marked gene: FKRP as ready
Genomic newborn screening: BabyScreen+ v0.1011 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1011 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Genomic newborn screening: BabyScreen+ v0.1010 FKRP Zornitza Stark Classified gene: FKRP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1010 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1009 FKRP Zornitza Stark reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1009 FKTN Zornitza Stark Marked gene: FKTN as ready
Genomic newborn screening: BabyScreen+ v0.1009 FKTN Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1009 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Genomic newborn screening: BabyScreen+ v0.1008 FKTN Zornitza Stark Classified gene: FKTN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1008 FKTN Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1007 FKTN Zornitza Stark reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark changed review comment from: Well established gene-disease association.

Typically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter.

For review.; to: Well established gene-disease association.

Typically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter. Renal cancer age of onset ~50 years.

For review.
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark Marked gene: FLCN as ready
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark Gene: flcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1007 FLCN Zornitza Stark Phenotypes for gene: FLCN were changed from Birt-Hogg-Dube syndrome to Birt-Hogg-Dube syndrome, MIM# 135150
Genomic newborn screening: BabyScreen+ v0.1006 FLCN Zornitza Stark Classified gene: FLCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1006 FLCN Zornitza Stark Gene: flcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1005 FLCN Zornitza Stark Tag for review tag was added to gene: FLCN.
Genomic newborn screening: BabyScreen+ v0.1005 FLCN Zornitza Stark reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome, MIM# 135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1005 FLNA Zornitza Stark Marked gene: FLNA as ready
Genomic newborn screening: BabyScreen+ v0.1005 FLNA Zornitza Stark Gene: flna has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1005 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from Otopalatodigital spectrum disorder to FLNA-related disorders; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
Genomic newborn screening: BabyScreen+ v0.1004 FLNA Zornitza Stark Classified gene: FLNA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1004 FLNA Zornitza Stark Gene: flna has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1003 FLNA Zornitza Stark reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FLNA-related disorders, Frontometaphyseal dysplasia 305620, Otopalatodigital syndrome, type II -304120, Osteodysplasty Melnick Needles 309350, Melnick Needles syndrome 309350, Otopalatodigital syndrome, type II 304120, Frontometaphyseal dysplasia 305620, Terminal osseous dysplasia 300244, Otopalatodigital syndrome, type I -311300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.1003 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
Genomic newborn screening: BabyScreen+ v0.1003 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1003 FOXA2 Zornitza Stark Phenotypes for gene: FOXA2 were changed from Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 to Hyperinsulinism MONDO:0002177
Genomic newborn screening: BabyScreen+ v0.1002 FOXA2 Zornitza Stark Mode of inheritance for gene: FOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic newborn screening: BabyScreen+ v0.1001 FOXA2 Zornitza Stark reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1001 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Genomic newborn screening: BabyScreen+ v0.1001 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1001 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from Axenfeld-Rieger syndrome to Axenfeld-Rieger syndrome, type 3, MIM# 602482
Genomic newborn screening: BabyScreen+ v0.1000 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1000 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.999 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.999 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Genomic newborn screening: BabyScreen+ v0.999 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.999 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphoedema, primary to Lymphoedema-distichiasis syndrome, MIM# 153400
Genomic newborn screening: BabyScreen+ v0.998 FOXC2 Zornitza Stark Classified gene: FOXC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.998 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.997 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.997 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Genomic newborn screening: BabyScreen+ v0.997 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.997 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from Alveolar capillary dysplasia with misalignment of pulmonary veins to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Genomic newborn screening: BabyScreen+ v0.996 FOXF1 Zornitza Stark Classified gene: FOXF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.996 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.995 FOXF1 Zornitza Stark reviewed gene: FOXF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.995 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Genomic newborn screening: BabyScreen+ v0.995 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.995 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to autosomal recessive distal renal tubular acidosis MONDO:0018440
Genomic newborn screening: BabyScreen+ v0.994 FOXI1 Zornitza Stark Classified gene: FOXI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.994 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.993 FOXI1 Zornitza Stark reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.993 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Genomic newborn screening: BabyScreen+ v0.993 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.993 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from IPEX syndrome, MIM#304790 to IPEX syndrome, MIM#304790
Genomic newborn screening: BabyScreen+ v0.992 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Genomic newborn screening: BabyScreen+ v0.992 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.992 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome to Fraser syndrome 1, MIM#219000
Genomic newborn screening: BabyScreen+ v0.991 FRAS1 Zornitza Stark Classified gene: FRAS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.991 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.990 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Marked gene: GLDC as ready
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.990 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from Glycine encephalopathy to Glycine encephalopathy, MIM# 605899
Genomic newborn screening: BabyScreen+ v0.989 GLDC Zornitza Stark Publications for gene: GLDC were set to
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Tag for review tag was added to gene: GLDC.
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.988 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.987 GLDC Zornitza Stark reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.987 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Gangliosidosis GM1 to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Genomic newborn screening: BabyScreen+ v0.986 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Genomic newborn screening: BabyScreen+ v0.985 GLB1 Zornitza Stark Classified gene: GLB1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.985 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.984 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Marked gene: F10 as ready
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Classified gene: F10 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark Tag for review tag was added to gene: F10.
Genomic newborn screening: BabyScreen+ v0.983 F10 Zornitza Stark reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Marked gene: FTL as ready
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.983 FTL Zornitza Stark Phenotypes for gene: FTL were changed from Neuroferritinopathy to Neurodegeneration with brain iron accumulation 3, MIM# 606159
Genomic newborn screening: BabyScreen+ v0.982 FTL Zornitza Stark Classified gene: FTL as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.982 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.981 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Marked gene: FXN as ready
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.981 FXN Zornitza Stark Phenotypes for gene: FXN were changed from Friedreich ataxia to Friedreich ataxia MONDO:0100339
Genomic newborn screening: BabyScreen+ v0.980 FXN Zornitza Stark Classified gene: FXN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.980 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.979 FXN Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MONDO:0100339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Marked gene: EZH2 as ready
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.979 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from Weaver syndrome 2 to Weaver syndrome MIM#277590
Genomic newborn screening: BabyScreen+ v0.978 EZH2 Zornitza Stark Classified gene: EZH2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.978 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.977 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.977 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 10, MIM# 601316
Genomic newborn screening: BabyScreen+ v0.976 EYA4 Zornitza Stark Classified gene: EYA4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.976 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.975 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.975 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Genomic newborn screening: BabyScreen+ v0.974 EYA1 Zornitza Stark Classified gene: EYA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.974 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.973 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Marked gene: EXT2 as ready
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.973 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
Genomic newborn screening: BabyScreen+ v0.972 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.971 EXT2 Zornitza Stark Classified gene: EXT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.971 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.970 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.970 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from Exostoses, multiple, type 1 to Exostoses, multiple, type 1, MIM# 133700
Genomic newborn screening: BabyScreen+ v0.969 EXT1 Zornitza Stark Classified gene: EXT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.969 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.968 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exostoses, multiple, type 1, MIM# 133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Marked gene: EVC2 as ready
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.968 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
Genomic newborn screening: BabyScreen+ v0.967 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.966 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.966 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.965 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Marked gene: EVC as ready
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.965 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500
Genomic newborn screening: BabyScreen+ v0.964 EVC Zornitza Stark Classified gene: EVC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.964 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.963 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.963 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.963 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.962 EFTUD2 Zornitza Stark edited their review of gene: EFTUD2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.962 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from Hearing loss to Deafness, autosomal recessive 35, MIM#608565
Genomic newborn screening: BabyScreen+ v0.961 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark Marked gene: ESPN as ready
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.961 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.961 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from Roberts syndrome to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
Genomic newborn screening: BabyScreen+ v0.960 ESCO2 Zornitza Stark Classified gene: ESCO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.960 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.959 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.959 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Cockayne syndrome to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569
Genomic newborn screening: BabyScreen+ v0.958 ERCC8 Zornitza Stark Classified gene: ERCC8 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.958 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.957 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.957 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome to Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955; Cockayne syndrome, type B, MIM# 133540 MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909
Genomic newborn screening: BabyScreen+ v0.956 ERCC6 Zornitza Stark Classified gene: ERCC6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.956 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.955 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955, Cockayne syndrome, type B, MIM# 133540 MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.955 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
Genomic newborn screening: BabyScreen+ v0.954 ERCC5 Zornitza Stark Classified gene: ERCC5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.954 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark Tag for review tag was added to gene: ERCC5.
Genomic newborn screening: BabyScreen+ v0.953 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.953 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group D, MIM# 278730
Genomic newborn screening: BabyScreen+ v0.952 ERCC2 Zornitza Stark Classified gene: ERCC2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.952 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark Tag for review tag was added to gene: ERCC2.
Genomic newborn screening: BabyScreen+ v0.951 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8L2 Zornitza Stark reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLB1 John Christodoulou edited their review of gene: GLB1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou edited their review of gene: GLDC: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou changed review comment from: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718); to: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)
Genomic newborn screening: BabyScreen+ v0.950 GLRA1 John Christodoulou edited their review of gene: GLRA1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.950 GLUD1 John Christodoulou reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35752848; Phenotypes: hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLRA1 John Christodoulou reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32319239, PMID: 25356525; Phenotypes: hyperekplexia, stiffness, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLDC John Christodoulou reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16404748, PMID: 34513771; Phenotypes: acute encephalopathy, seizures, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLB1 John Christodoulou reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34539759; Phenotypes: neurodegeneration, coarse facial features, gingival hyperplasia, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GLA John Christodoulou reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30017653; Phenotypes: neuropathic pain, cardiomyopathy, cataract, agniokeratomata, deafness, hypohidrosis, stroke, renal failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.950 GIF John Christodoulou reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35337622; Phenotypes: pernicious anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou edited their review of gene: GGCX: Changed phenotypes: bleeding disorder, pseudoxanthoma elasticum, pigmentary retinopathy, congenital heart disease
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou changed review comment from: can have its onset in the newborn period and can be severe

treatable with vitamin K; to: can have its onset in the newborn period and can be severe

treatable with vitamin K
Genomic newborn screening: BabyScreen+ v0.950 GGCX John Christodoulou reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28125048; Phenotypes: bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.950 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from deafness MIM#600205 to Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark edited their review of gene: EPS8: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.949 EPS8 Zornitza Stark reviewed gene: EPS8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102, MIM# MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.949 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) to Lafora disease MONDO:0009697
Genomic newborn screening: BabyScreen+ v0.948 EPM2A Zornitza Stark Classified gene: EPM2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.948 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.947 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.947 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Arterial calcification, generalized, of infancy, 1 to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark changed review comment from: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements; to: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Onset is congenital/early infancy.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark Tag treatable tag was added to gene: ENPP1.
Genomic newborn screening: BabyScreen+ v0.946 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.946 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Genomic newborn screening: BabyScreen+ v0.945 TTC7A Zornitza Stark Classified gene: TTC7A as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.945 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC7A Zornitza Stark Tag for review tag was added to gene: TTC7A.
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.944 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome to Trichohepatoenteric syndrome 1, MIM#222470
Genomic newborn screening: BabyScreen+ v0.943 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Classified gene: TTC37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.942 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.941 TTC21B Zornitza Stark Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
Genomic newborn screening: BabyScreen+ v0.940 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.939 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.939 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.938 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Genomic newborn screening: BabyScreen+ v0.937 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.937 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Marked gene: TSHR as ready
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.936 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
Genomic newborn screening: BabyScreen+ v0.935 TSHR Zornitza Stark Publications for gene: TSHR were set to
Genomic newborn screening: BabyScreen+ v0.934 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.933 TSHR Zornitza Stark Tag for review tag was added to gene: TSHR.
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Marked gene: TSHB as ready
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.933 TSHB Zornitza Stark Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4 to Hypothyroidism, congenital, nongoitrous 4, MIM#275100
Genomic newborn screening: BabyScreen+ v0.932 TSHB Zornitza Stark Publications for gene: TSHB were set to
Genomic newborn screening: BabyScreen+ v0.931 TSHB Zornitza Stark Tag treatable tag was added to gene: TSHB.
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.931 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 to Pontocerebellar hypoplasia type 2A MIM#277470
Genomic newborn screening: BabyScreen+ v0.930 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Genomic newborn screening: BabyScreen+ v0.929 TSEN54 Zornitza Stark Classified gene: TSEN54 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.929 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.928 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
Genomic newborn screening: BabyScreen+ v0.927 TSC2 Zornitza Stark Tag for review tag was added to gene: TSC2.
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.927 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
Genomic newborn screening: BabyScreen+ v0.926 TSC1 Zornitza Stark Tag for review tag was added to gene: TSC1.
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.926 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from Cardiac conduction disease to Progressive familial heart block, type IB 604559
Genomic newborn screening: BabyScreen+ v0.925 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to
Genomic newborn screening: BabyScreen+ v0.924 TRPM4 Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.924 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.923 TRPM4 Zornitza Stark Tag for review tag was added to gene: TRPM4.
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Marked gene: TRMU as ready
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.923 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile to Liver failure, transient infantile MIM# 613070
Genomic newborn screening: BabyScreen+ v0.922 TRMU Zornitza Stark Publications for gene: TRMU were set to
Genomic newborn screening: BabyScreen+ v0.921 TRMU Zornitza Stark Tag treatable tag was added to gene: TRMU.
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Marked gene: TRIOBP as ready
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Gene: triobp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.921 TRIOBP Zornitza Stark Phenotypes for gene: TRIOBP were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 28, MIM#609823
Genomic newborn screening: BabyScreen+ v0.920 TRIOBP Zornitza Stark Publications for gene: TRIOBP were set to
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.919 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism syndrome to Mulibrey nanism MIM#253250
Genomic newborn screening: BabyScreen+ v0.918 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Genomic newborn screening: BabyScreen+ v0.917 TRIM37 Zornitza Stark Classified gene: TRIM37 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.917 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.916 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.916 ENG Zornitza Stark Publications for gene: ENG were set to
Genomic newborn screening: BabyScreen+ v0.915 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.915 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed publications: 32894695
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark changed review comment from: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI).

For review.; to: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI). Management guidelines also suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.

Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Marked gene: ENG as ready
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.914 ENG Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
Genomic newborn screening: BabyScreen+ v0.913 ENG Zornitza Stark Classified gene: ENG as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.913 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.912 ENG Zornitza Stark reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Marked gene: EMD as ready
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.912 EMD Zornitza Stark Phenotypes for gene: EMD were changed from Muscular dystrophy, Emery-Dreifuss to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Genomic newborn screening: BabyScreen+ v0.911 EMD Zornitza Stark Classified gene: EMD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.911 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark Tag for review tag was added to gene: EMD.
Genomic newborn screening: BabyScreen+ v0.910 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.910 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial to Dysautonomia, familial MIM#223900; paediatric medulloblastoma
Genomic newborn screening: BabyScreen+ v0.909 ELP1 Zornitza Stark Mode of inheritance for gene: ELP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.908 ELP1 Zornitza Stark Classified gene: ELP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.908 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.907 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Marked gene: ELN as ready
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.907 ELN Zornitza Stark Phenotypes for gene: ELN were changed from Supravalvar aortic stenosis to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504
Genomic newborn screening: BabyScreen+ v0.906 ELN Zornitza Stark Classified gene: ELN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.906 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.905 ELN Zornitza Stark reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Marked gene: ELANE as ready
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.905 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from Neutropenia, congenital, MIM#202700 to Neutropenia, congenital, MIM#202700
Genomic newborn screening: BabyScreen+ v0.904 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.904 EIF2AK3 Zornitza Stark reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Marked gene: EGR2 as ready
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.904 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253
Genomic newborn screening: BabyScreen+ v0.903 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.902 EGR2 Zornitza Stark Classified gene: EGR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.902 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.901 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678, Dejerine-Sottas disease 145900, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.901 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis with microcephaly to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
Genomic newborn screening: BabyScreen+ v0.900 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark edited their review of gene: EFL1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.900 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome type 4A MONDO:0010192; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.900 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 4B, MIM# 613265
Genomic newborn screening: BabyScreen+ v0.899 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Marked gene: EDARADD as ready
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.899 EDARADD Zornitza Stark Phenotypes for gene: EDARADD were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Genomic newborn screening: BabyScreen+ v0.898 EDARADD Zornitza Stark Mode of inheritance for gene: EDARADD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.897 EDARADD Zornitza Stark Classified gene: EDARADD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.897 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.896 EDARADD Zornitza Stark reviewed gene: EDARADD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Marked gene: EDAR as ready
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.896 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Genomic newborn screening: BabyScreen+ v0.895 EDAR Zornitza Stark Classified gene: EDAR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.895 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.894 EDAR Zornitza Stark reviewed gene: EDAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Marked gene: EDA as ready
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.894 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Genomic newborn screening: BabyScreen+ v0.893 EDA Zornitza Stark Classified gene: EDA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.893 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.892 EDA Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Marked gene: DYSF as ready
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.892 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768
Genomic newborn screening: BabyScreen+ v0.891 DYSF Zornitza Stark Classified gene: DYSF as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.891 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DYSF Zornitza Stark reviewed gene: DYSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, autosomal recessive 2 253601, Myopathy, distal, with anterior tibial onset 606768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark Tag treatable tag was added to gene: DUOXA2.
Genomic newborn screening: BabyScreen+ v0.890 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRIM37 Lilian Downie reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 7735507, PMID: 30586926; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRIOBP Lilian Downie reviewed gene: TRIOBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16385457, 16385458; Phenotypes: Deafness, autosomal recessive 28 MIM#609823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie edited their review of gene: TRMU: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie changed review comment from: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation; to: Established gene disease association
Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie Deleted their comment
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie commented on gene: TRMU: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
Genomic newborn screening: BabyScreen+ v0.890 TRMU Lilian Downie reviewed gene: TRMU: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 19732863, PMID: 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TRPM4 Lilian Downie reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19726882, PMID: 33381229; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSC1 Lilian Downie reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301399; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSC2 Lilian Downie reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21309039, PMID: 11112665, PMID: 24053983 , PMID: 20301399; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.890 TSEN54 Lilian Downie reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301773; Phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSHB Lilian Downie reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31166470, PMID: 35102753, MID: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSHR Lilian Downie reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8981017, PMID: 20515734; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM, NONAUTOIMMUNE HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CHNG1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TSR2 Lilian Downie reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24942156, 11424144; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MIM#300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.890 TTC21B Lilian Downie reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21258341, PMID: 25492405, PMID: 33547761; Phenotypes: NEPHRONOPHTHISIS, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TTC37 Lilian Downie reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29527791, PMID: 29334452; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 TTC7A Lilian Downie reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30553809, PMID: 34975848, PMID: 33746097; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.890 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 6, MIM# 607200
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.889 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark Tag treatable tag was added to gene: DOK7.
Genomic newborn screening: BabyScreen+ v0.889 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.889 DOCK8 Zornitza Stark reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.889 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Genomic newborn screening: BabyScreen+ v0.888 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.888 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
Genomic newborn screening: BabyScreen+ v0.887 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.887 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.886 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Marked gene: DNAJB6 as ready
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.886 DNAJB6 Zornitza Stark Phenotypes for gene: DNAJB6 were changed from Muscular dystrophy, limb girdle to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
Genomic newborn screening: BabyScreen+ v0.885 DNAJB6 Zornitza Stark reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.885 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Genomic newborn screening: BabyScreen+ v0.884 DNAI1 Zornitza Stark Classified gene: DNAI1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.884 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.883 DNAI1 Zornitza Stark reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.883 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Genomic newborn screening: BabyScreen+ v0.882 DNAH5 Zornitza Stark Classified gene: DNAH5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.882 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.881 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.881 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Genomic newborn screening: BabyScreen+ v0.880 DNAH11 Zornitza Stark Classified gene: DNAH11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.880 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.879 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.879 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 13, MIM# 613193
Genomic newborn screening: BabyScreen+ v0.878 DNAAF1 Zornitza Stark Classified gene: DNAAF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.878 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.877 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Classified gene: DMXL2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.876 DMXL2 Zornitza Stark reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Marked gene: DMP1 as ready
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Gene: dmp1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.876 DMP1 Zornitza Stark Phenotypes for gene: DMP1 were changed from Hypophosphatemic rickets, AR to Hypophosphatemic rickets MIM#241520
Genomic newborn screening: BabyScreen+ v0.875 DMP1 Zornitza Stark reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.875 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis, autosomal recessive, 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Genomic newborn screening: BabyScreen+ v0.874 DLL3 Zornitza Stark Classified gene: DLL3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.874 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.873 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.873 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Genomic newborn screening: BabyScreen+ v0.872 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.871 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.871 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.870 DIAPH1 Zornitza Stark reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632, Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.870 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from Hearing loss to Deafness, autosomal recessive 59, MIM# 610220
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark commented on gene: DFNB59: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.

Hearing loss is pre-lingual, therefore include.

Treatment: hearing aids/cochlear implant.
Genomic newborn screening: BabyScreen+ v0.869 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.869 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from Hearing loss to Deafness, autosomal dominant 5, MIM# 600994
Genomic newborn screening: BabyScreen+ v0.868 DFNA5 Zornitza Stark Classified gene: DFNA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.868 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark commented on gene: DFNA5: Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models.

New HGNC approved name is GSDME.

However, age of onset is typically 11-50, therefore exclude.
Genomic newborn screening: BabyScreen+ v0.867 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.867 PALB2 Zornitza Stark Tag for review was removed from gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC. Age at entry is 2 years and older.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.

Keep on Amber list.
Genomic newborn screening: BabyScreen+ v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.
Genomic newborn screening: BabyScreen+ v0.867 SCN8A Zornitza Stark Classified gene: SCN8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.867 SCN8A Zornitza Stark Gene: scn8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark Tag for review was removed from gene: SCN8A.
Genomic newborn screening: BabyScreen+ v0.866 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.866 NPC2 Zornitza Stark Tag for review was removed from gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.866 MYO6 Zornitza Stark Tag for review was removed from gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.866 PAX6 Zornitza Stark Tag for review was removed from gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.866 SLC12A3 Zornitza Stark Tag for review was removed from gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.866 NBN Zornitza Stark Tag for review was removed from gene: NBN.
Genomic newborn screening: BabyScreen+ v0.866 TYR Zornitza Stark Tag for review was removed from gene: TYR.
Genomic newborn screening: BabyScreen+ v0.866 TYR Zornitza Stark changed review comment from: Treatment is supportive.

For review.; to: Diagnosis is clinical. Treatment is supportive.
Genomic newborn screening: BabyScreen+ v0.866 APC Zornitza Stark Classified gene: APC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.866 APC Zornitza Stark Gene: apc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.865 APC Zornitza Stark Tag for review was removed from gene: APC.
Genomic newborn screening: BabyScreen+ v0.865 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.865 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark Tag pharmacogenomic tag was added to gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark edited their review of gene: LAMA2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark changed review comment from: No specific treatment.; to: No specific treatment.
Succinylcholine in induction of anaesthesia because of risk of hyperkalaemia and cardiac conduction abnormalities; statins, cholesterol-lowering medications, because of the risk of muscle damage.
Genomic newborn screening: BabyScreen+ v0.864 LAMA2 Zornitza Stark Tag for review was removed from gene: LAMA2.
Genomic newborn screening: BabyScreen+ v0.864 DGUOK Zornitza Stark Tag for review was removed from gene: DGUOK.
Genomic newborn screening: BabyScreen+ v0.864 DGUOK Zornitza Stark changed review comment from: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches.

For review.; to: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches. May not be eligible for liver transplant due to multi-system involvement.

For review.
Genomic newborn screening: BabyScreen+ v0.864 ALAS2 Zornitza Stark Tag for review was removed from gene: ALAS2.
Genomic newborn screening: BabyScreen+ v0.864 DDB2 Zornitza Stark Marked gene: DDB2 as ready
Genomic newborn screening: BabyScreen+ v0.864 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.864 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Genomic newborn screening: BabyScreen+ v0.863 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.863 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark Tag for review was removed from gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available but emboli zing AVMs alters their natural history.

Management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
Genomic newborn screening: BabyScreen+ v0.862 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.862 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Classified gene: GFPT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark reviewed gene: GFPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.861 GFPT1 Zornitza Stark Tag for review was removed from gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.861 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1 to Combined oxidative phosphorylation deficiency 1, MIM#609060
Genomic newborn screening: BabyScreen+ v0.860 GFM1 Zornitza Stark Classified gene: GFM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.860 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.859 GFM1 Zornitza Stark reviewed gene: GFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Marked gene: GFAP as ready
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.859 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from Alexander disease to Alexander disease, MIM#203450
Genomic newborn screening: BabyScreen+ v0.858 GFAP Zornitza Stark Classified gene: GFAP as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.858 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.857 GFAP Zornitza Stark Tag for review was removed from gene: GFAP.
Tag clinical trial tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.857 GFAP Zornitza Stark reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.857 PALB2 Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.857 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.857 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes but some improvement seen in metabolic parameters, and behavioural manifestations.

Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.856 DHCR7 Zornitza Stark Tag for review was removed from gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.856 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.856 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark Tag for review was removed from gene: SERPINA1.
Genomic newborn screening: BabyScreen+ v0.855 SERPINA1 Zornitza Stark reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.855 UROD Zornitza Stark Classified gene: UROD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.855 UROD Zornitza Stark Gene: urod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.854 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
Genomic newborn screening: BabyScreen+ v0.853 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
Genomic newborn screening: BabyScreen+ v0.852 DDB2 Zornitza Stark Classified gene: DDB2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.852 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.851 DDB2 Zornitza Stark edited their review of gene: DDB2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung Tag for review tag was added to gene: GFPT1.
Genomic newborn screening: BabyScreen+ v0.851 GFPT1 Alison Yeung reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung Tag review tag was added to gene: GFM1.
Genomic newborn screening: BabyScreen+ v0.851 GFM1 Alison Yeung reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung Tag for review tag was added to gene: GFAP.
Genomic newborn screening: BabyScreen+ v0.851 GFAP Alison Yeung reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.851 GDAP1 Alison Yeung reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Marked gene: DMPK as ready
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.851 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900
Genomic newborn screening: BabyScreen+ v0.850 DMPK Zornitza Stark Classified gene: DMPK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.850 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.849 DMPK Zornitza Stark reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark Tag for review tag was added to gene: DDB2.
Genomic newborn screening: BabyScreen+ v0.849 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530099, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Marked gene: DCX as ready
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.849 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, MIM# 300067 to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Genomic newborn screening: BabyScreen+ v0.848 DCX Zornitza Stark Classified gene: DCX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.848 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.847 DCX Zornitza Stark reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.847 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, MIM#603554 to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark Tag treatable tag was added to gene: DCLRE1C.
Genomic newborn screening: BabyScreen+ v0.846 DCLRE1C Zornitza Stark reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.846 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome to Alport syndrome 1, X-linked, MIM# 301050
Genomic newborn screening: BabyScreen+ v0.845 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.844 COL4A5 Zornitza Stark Tag treatable tag was added to gene: COL4A5.
Genomic newborn screening: BabyScreen+ v0.844 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.844 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from Stickler syndrome to Stickler syndrome, type I, MIM# 108300
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark Tag for review tag was added to gene: COL2A1.
Genomic newborn screening: BabyScreen+ v0.843 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.843 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome to Ehlers-Danlos syndrome, classic type, 2 MIM#130010
Genomic newborn screening: BabyScreen+ v0.842 COL5A2 Zornitza Stark Classified gene: COL5A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.842 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.841 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.841 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000 EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
Genomic newborn screening: BabyScreen+ v0.840 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.839 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.839 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.838 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000 EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.838 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750
Genomic newborn screening: BabyScreen+ v0.837 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Genomic newborn screening: BabyScreen+ v0.836 TWIST1 Zornitza Stark Classified gene: TWIST1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.836 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.835 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Marked gene: TWNK as ready
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.835 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Spinocerebellar ataxia infantile-onset to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
Genomic newborn screening: BabyScreen+ v0.834 TWNK Zornitza Stark Publications for gene: TWNK were set to
Genomic newborn screening: BabyScreen+ v0.833 TWNK Zornitza Stark Classified gene: TWNK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.833 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Marked gene: TYMP as ready
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.832 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
Genomic newborn screening: BabyScreen+ v0.831 TYMP Zornitza Stark Publications for gene: TYMP were set to
Genomic newborn screening: BabyScreen+ v0.830 TYMP Zornitza Stark Classified gene: TYMP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.830 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Marked gene: TYR as ready
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.829 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous 1 to Oculocutaneous albinism type 1 MIM## 203100, # 606952
Genomic newborn screening: BabyScreen+ v0.828 TYR Zornitza Stark Publications for gene: TYR were set to
Genomic newborn screening: BabyScreen+ v0.827 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.827 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark Tag for review tag was added to gene: TYR.
Genomic newborn screening: BabyScreen+ v0.826 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.826 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark Tag treatable tag was added to gene: UBE2T.
Genomic newborn screening: BabyScreen+ v0.825 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.825 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, type I to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
Genomic newborn screening: BabyScreen+ v0.824 COL5A1 Zornitza Stark Classified gene: COL5A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.824 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.823 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.823 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
Genomic newborn screening: BabyScreen+ v0.822 COL6A3 Zornitza Stark Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.821 COL6A3 Zornitza Stark Classified gene: COL6A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.821 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.820 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.820 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
Genomic newborn screening: BabyScreen+ v0.819 COL6A2 Zornitza Stark Mode of inheritance for gene: COL6A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.818 COL6A2 Zornitza Stark Classified gene: COL6A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.818 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.817 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.817 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
Genomic newborn screening: BabyScreen+ v0.816 COL6A1 Zornitza Stark Mode of inheritance for gene: COL6A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.815 COL6A1 Zornitza Stark Classified gene: COL6A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.815 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.814 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.814 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark Tag for review tag was added to gene: COL9A3.
Genomic newborn screening: BabyScreen+ v0.813 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type VI, MIM# 620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Marked gene: TTPA as ready
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.813 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency to Ataxia with isolated vitamin E deficiency MIM#277460
Genomic newborn screening: BabyScreen+ v0.812 TTPA Zornitza Stark Publications for gene: TTPA were set to
Genomic newborn screening: BabyScreen+ v0.811 TTPA Zornitza Stark Tag treatable tag was added to gene: TTPA.
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Marked gene: TTR as ready
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.811 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidosis, hereditary, transthyretin-related to Amyloidosis, hereditary, transthyretin-related MIM#105210
Genomic newborn screening: BabyScreen+ v0.810 TTR Zornitza Stark Publications for gene: TTR were set to
Genomic newborn screening: BabyScreen+ v0.809 TTR Zornitza Stark Classified gene: TTR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.809 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.808 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from Pancreatic agenesis, MIM# # 260370 to Pancreatic agenesis, MIM# # 260370
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Marked gene: PDE4D as ready
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.807 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from Acrodysostosis 2, with or without hormone resistance to Acrodysostosis 2, with or without hormone resistance, MIM#614613
Genomic newborn screening: BabyScreen+ v0.806 PDE4D Zornitza Stark Classified gene: PDE4D as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.806 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Marked gene: PCNT as ready
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.805 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism type 2 to Microcephalic osteodysplastic primordial dwarfism, type II, 210720
Genomic newborn screening: BabyScreen+ v0.804 PCNT Zornitza Stark Classified gene: PCNT as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.804 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.803 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533
Genomic newborn screening: BabyScreen+ v0.802 TTPA Lilian Downie reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301419, PMID: 25614784, PMID: 20464573, PMID: 16491382; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 TTR Lilian Downie reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301373, PMID: 3032328, PMID: 29972753, PMID: 29972757; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.802 PDX1 David Amor reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 1, (Permanent Neonatal Diabetes Mellitus) 260370; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 PDE4D David Amor reviewed gene: PDE4D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.802 PCNT David Amor reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 PCDH15 David Amor reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.802 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII to Osteogenesis imperfecta, type VII, MIM# MIM#610682
Genomic newborn screening: BabyScreen+ v0.801 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM# MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TWIST1 Lilian Downie reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32487807 PMID: 32909287 PMID: 20301368; Phenotypes: Craniosynostosis/Saethre-Chotzen Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.801 TWNK Lilian Downie reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16135556,19304794,17921179, 27551684, 12872260, 31823625; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 MIM# 271245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TYMP Lilian Downie reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301358, PMID: 33825174, PMID: 32980811, PMID: 26264513, PMID: 19371766; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 TYR Lilian Downie reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17980020, PMID: 33599182; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 UBE2T Lilian Downie reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32646888, PMID: 26119737, PMID: 26046368, PMID: 26085575; Phenotypes: Fanconi anemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Classified gene: CSF2RA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.800 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Marked gene: CSF3R as ready
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.800 CSF3R Zornitza Stark Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014
Genomic newborn screening: BabyScreen+ v0.799 CSF3R Zornitza Stark Mode of inheritance for gene: CSF3R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.798 CSF3R Zornitza Stark Tag treatable tag was added to gene: CSF3R.
Genomic newborn screening: BabyScreen+ v0.798 CSF3R Zornitza Stark reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.798 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome to Johanson-Blizzard syndrome MIM#243800
Genomic newborn screening: BabyScreen+ v0.797 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Genomic newborn screening: BabyScreen+ v0.796 UBR1 Zornitza Stark Classified gene: UBR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.796 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.795 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome to Crigler-Najjar syndrome, type I, MIM# 218800
Genomic newborn screening: BabyScreen+ v0.794 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Zornitza Stark Tag treatable tag was added to gene: UGT1A1.
Genomic newborn screening: BabyScreen+ v0.793 UBR1 Lilian Downie reviewed gene: UBR1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24599544; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.793 UGT1A1 Lilian Downie reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26595536, PMID: 29448836; Phenotypes: Crigler-Najjar syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Marked gene: CSTB as ready
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.793 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Genomic newborn screening: BabyScreen+ v0.792 CSTB Zornitza Stark Classified gene: CSTB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.792 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.791 CSTB Zornitza Stark reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.791 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Coats plus syndrome to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Genomic newborn screening: BabyScreen+ v0.790 CTC1 Zornitza Stark Classified gene: CTC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.790 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark Tag treatable tag was added to gene: CTPS1.
Genomic newborn screening: BabyScreen+ v0.789 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 24, MIM# 615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Marked gene: CTSK as ready
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.789 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from Pycnodysostosis to Pycnodysostosis - MIM#265800
Genomic newborn screening: BabyScreen+ v0.788 CTSK Zornitza Stark Classified gene: CTSK as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.788 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.787 CTSK Zornitza Stark reviewed gene: CTSK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis - MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.787 CYP27A1 John Christodoulou changed review comment from: treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884); to: Onset of disease can be in infancy childhood, with a case made for newborn screening/genetic testing because of effective treatments being available - PMID: 33630770

treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884)
Genomic newborn screening: BabyScreen+ v0.787 PCBD1 John Christodoulou changed review comment from: is on the current VCGS newborn screening panel; to: is on the current VCGS newborn screening panel by virtue of phenylalanine being the primary first tier metabolite that is analysed.

Hyperphenylalaninaemia when present in the newborn is transient. There doesn’t appear to be cognitive impairment if untreated, but some individuals develop diabetes and/or mild hypomagnesaemia later in adolescence. There does not appear to be any evidence that any treatments in infancy would have an effect on these two late effects. See: PMID: 32456656

So, I think we can take this one off the list.
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.787 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M syndrome to 3-M syndrome 1, MIM# 273750
Genomic newborn screening: BabyScreen+ v0.786 CUL7 Zornitza Stark Classified gene: CUL7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.786 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 1, MIM# 273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.785 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Marked gene: CYBA as ready
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark Tag treatable tag was added to gene: CYBA.
Genomic newborn screening: BabyScreen+ v0.785 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Marked gene: CYBB as ready
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark Tag treatable tag was added to gene: CYBB.
Genomic newborn screening: BabyScreen+ v0.785 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.785 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Genomic newborn screening: BabyScreen+ v0.784 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.784 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.783 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.783 MMAB Zornitza Stark Marked gene: MMAB as ready
Genomic newborn screening: BabyScreen+ v0.783 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 IVD Zornitza Stark Marked gene: IVD as ready
Genomic newborn screening: BabyScreen+ v0.783 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Marked gene: GBA as ready
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.783 GBA Zornitza Stark Phenotypes for gene: GBA were changed from Gaucher disease 1 to Gaucher disease type 1, MIM#230800
Genomic newborn screening: BabyScreen+ v0.782 GBA Zornitza Stark Tag treatable tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Tag treatable tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Genomic newborn screening: BabyScreen+ v0.782 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.782 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
Genomic newborn screening: BabyScreen+ v0.781 CREBBP Zornitza Stark Classified gene: CREBBP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.781 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.780 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.780 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta, type II to Osteogenesis imperfecta, type II , MIM#166210
Genomic newborn screening: BabyScreen+ v0.779 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type II , MIM#166210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.779 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I, MIM#166200
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark Tag treatable tag was added to gene: COL1A1.
Genomic newborn screening: BabyScreen+ v0.778 COL1A1 Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I MIM#166200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.778 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type to Epidermolysis bullosa, junctional 4, intermediate MIM#619787
Genomic newborn screening: BabyScreen+ v0.777 COL17A1 Zornitza Stark Classified gene: COL17A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.777 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.776 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Marked gene: PHYH as ready
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.776 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
Genomic newborn screening: BabyScreen+ v0.775 PHYH Zornitza Stark Classified gene: PHYH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.775 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.774 PHYH Zornitza Stark Tag treatable tag was added to gene: PHYH.
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.774 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease IXc, MIM# 613027
Genomic newborn screening: BabyScreen+ v0.773 PHKG2 Zornitza Stark Tag treatable tag was added to gene: PHKG2.
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Marked gene: PHKB as ready
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.773 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from Phosphorylase kinase deficiency to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.772 PHKA2 Zornitza Stark Publications for gene: PHKA2 were set to
Genomic newborn screening: BabyScreen+ v0.771 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease, type IXa1 and a2, MIM# 306000
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PHGDH Zornitza Stark Tag treatable tag was added to gene: PHGDH.
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Marked gene: PFKM as ready
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.770 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease 7 to Glycogen storage disease VII (MIM#232800)
Genomic newborn screening: BabyScreen+ v0.769 PFKM Zornitza Stark Publications for gene: PFKM were set to
Genomic newborn screening: BabyScreen+ v0.768 PFKM Zornitza Stark Classified gene: PFKM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.768 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.767 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata; Refsum disease to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Genomic newborn screening: BabyScreen+ v0.766 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.766 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.765 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Genomic newborn screening: BabyScreen+ v0.764 PEX6 Zornitza Stark Classified gene: PEX6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.764 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.763 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Genomic newborn screening: BabyScreen+ v0.762 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.762 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.761 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Genomic newborn screening: BabyScreen+ v0.760 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.760 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.759 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Genomic newborn screening: BabyScreen+ v0.758 PEX26 Zornitza Stark Classified gene: PEX26 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.758 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.757 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Genomic newborn screening: BabyScreen+ v0.756 PEX2 Zornitza Stark Classified gene: PEX2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.756 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.755 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Genomic newborn screening: BabyScreen+ v0.754 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.754 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.753 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Genomic newborn screening: BabyScreen+ v0.752 PEX12 Zornitza Stark Classified gene: PEX12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.752 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.751 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Genomic newborn screening: BabyScreen+ v0.750 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.750 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.749 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.749 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.749 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.749 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia to Aniridia, OMIM 106210
Genomic newborn screening: BabyScreen+ v0.748 PAX6 Zornitza Stark Classified gene: PAX6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.748 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.747 PAX6 Zornitza Stark Tag for review tag was added to gene: PAX6.
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.747 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.746 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
Genomic newborn screening: BabyScreen+ v0.745 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.745 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.744 PALB2 Zornitza Stark Tag for review tag was added to gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.744 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation syndrome, X-linked to Mental retardation syndrome, X-linked 30, MIM#300558
Genomic newborn screening: BabyScreen+ v0.743 PAK3 Zornitza Stark Classified gene: PAK3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.743 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.742 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.741 P2RY12 Zornitza Stark Classified gene: P2RY12 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.741 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.740 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
Genomic newborn screening: BabyScreen+ v0.739 PEX1 Zornitza Stark Classified gene: PEX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.739 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Marked gene: PDHX as ready
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.738 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase complex deficiency to Lactic acidaemia due to PDX1 deficiency, MIM# 245349
Genomic newborn screening: BabyScreen+ v0.737 PDHX Zornitza Stark Publications for gene: PDHX were set to
Genomic newborn screening: BabyScreen+ v0.736 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency, MIM# 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.736 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase deficiency to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Genomic newborn screening: BabyScreen+ v0.735 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.734 PDHA1 Zornitza Stark commented on gene: PDHA1: To be reported in females.
Genomic newborn screening: BabyScreen+ v0.734 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Marked gene: PC as ready
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.734 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, MIM# 266150
Genomic newborn screening: BabyScreen+ v0.733 PC Zornitza Stark Publications for gene: PC were set to
Genomic newborn screening: BabyScreen+ v0.732 PC Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Gene: pax8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.732 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
Genomic newborn screening: BabyScreen+ v0.731 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
Genomic newborn screening: BabyScreen+ v0.730 NPC2 Zornitza Stark Tag for review tag was added to gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.730 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.730 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.729 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.729 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.728 CYP27A1 Zornitza Stark Tag for review was removed from gene: CYP27A1.
Genomic newborn screening: BabyScreen+ v0.728 CLN6 Zornitza Stark Tag for review was removed from gene: CLN6.
Genomic newborn screening: BabyScreen+ v0.728 CLN5 Zornitza Stark Tag for review was removed from gene: CLN5.
Genomic newborn screening: BabyScreen+ v0.728 CLN3 Zornitza Stark Tag for review was removed from gene: CLN3.
Genomic newborn screening: BabyScreen+ v0.728 ADAR Zornitza Stark commented on gene: ADAR: To be discussed further with neurology.
Genomic newborn screening: BabyScreen+ v0.728 UROD John Christodoulou reviewed gene: UROD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24175354; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.728 VHL Zornitza Stark Publications for gene: VHL were set to 20301636; 33945366; 34613603
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark Tag for review was removed from gene: VHL.
Tag treatable tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark edited their review of gene: VHL: Changed publications: 28620007
Genomic newborn screening: BabyScreen+ v0.727 VHL Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Marked gene: UROD as ready
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.727 UROD Zornitza Stark Phenotypes for gene: UROD were changed from Porphyria, hepatoerythropoietic to Porphyria, hepatoerythropoietic MIM#176100
Genomic newborn screening: BabyScreen+ v0.726 UROD Zornitza Stark Publications for gene: UROD were set to
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark Tag for review was removed from gene: UROD.
Genomic newborn screening: BabyScreen+ v0.725 UROD Zornitza Stark reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.725 SI Zornitza Stark Tag for review was removed from gene: SI.
Genomic newborn screening: BabyScreen+ v0.725 SFTPC Zornitza Stark Classified gene: SFTPC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.725 SFTPC Zornitza Stark Gene: sftpc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.724 SFTPC Zornitza Stark Tag for review was removed from gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.724 SCN3A Zornitza Stark Classified gene: SCN3A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.724 SCN3A Zornitza Stark Gene: scn3a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.723 SCN3A Zornitza Stark Tag for review was removed from gene: SCN3A.
Tag treatable was removed from gene: SCN3A.
Genomic newborn screening: BabyScreen+ v0.723 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.723 SCN2A Zornitza Stark Classified gene: SCN2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.723 SCN2A Zornitza Stark Gene: scn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.722 SCN2A Zornitza Stark Tag for review was removed from gene: SCN2A.
Tag treatable was removed from gene: SCN2A.
Genomic newborn screening: BabyScreen+ v0.722 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.722 SCN1A Zornitza Stark Classified gene: SCN1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.722 SCN1A Zornitza Stark Gene: scn1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.721 SCN1A Zornitza Stark Tag for review was removed from gene: SCN1A.
Tag treatable was removed from gene: SCN1A.
Genomic newborn screening: BabyScreen+ v0.721 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.721 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.

For review; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Tag for review was removed from gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.721 OTOGL Zornitza Stark Deleted their comment
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark Tag for review was removed from gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.721 NPC1 Zornitza Stark changed review comment from: For review: check treatment available locally; to: For review: check treatment available locally. Done.
Genomic newborn screening: BabyScreen+ v0.721 MYO6 Zornitza Stark changed review comment from: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?; to: For review: should we only screen for bi-allelic or both mono- and bi-allelic disease?

Panel review: screen for bi-allelic disease only.
Genomic newborn screening: BabyScreen+ v0.721 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 to Deafness, autosomal recessive 37, MIM# 607821
Genomic newborn screening: BabyScreen+ v0.720 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAX6 David Amor reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia, OMIM 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 PAX3 David Amor reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 1, OMIM 193500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 PANK2 David Amor reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PALB2 David Amor reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group N, OMIM 610832 (AR), Breast cancer, susceptibility to (OMIM 114480) (AD); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAK3 David Amor reviewed gene: PAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300558, Intellectual developmental disorder, X-linked 30; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.719 P2RY12 David Amor reviewed gene: P2RY12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 609821, Bleeding disorder, platelet-type, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHYH John Christodoulou reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa with night blindness, cataracts, polyneuropathy including sensory disturbances, cerebellar ataxia, anosmia, progressive hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKG2 John Christodoulou reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246, https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: hepatomegaly, hypotonia, growth retardation, hypoglycaemia, fasting ketosis, cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKB John Christodoulou reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: marked hepatomegaly, hypoglycaemia, short stature, fasting ketosis, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PHKA2 John Christodoulou reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246; Phenotypes: hepatomegaly, short stature, liver dysfunction, hypoglycaemia, hyperuricaemia, hyperlipidemia, fasting ketosis, mild motor delay; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.719 PHGDH John Christodoulou reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: growth retardation, congenital microcephaly, hypogonadism, hypertonia, severe ID, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PGM1 John Christodoulou reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32681750; Phenotypes: cleft lip, bifid uvula, hepatopathy, intermittent hypoglycemia, short stature, exercise intolerance, increased serum creatine kinase, rhabdomyolysis, dilated cardiomyopathy, hypogonadotropic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PFKM John Christodoulou reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 7550225; Phenotypes: rhabdomyolysis, myopathy, exercise intolerance, gout, haemolysis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX7 John Christodoulou reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX6 John Christodoulou reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX5 John Christodoulou reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX3 John Christodoulou reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX26 John Christodoulou reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX2 John Christodoulou reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX13 John Christodoulou reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX12 John Christodoulou reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX10 John Christodoulou reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PEX1 John Christodoulou reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PDHX John Christodoulou reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20002125, PMID: 33092611; Phenotypes: ID, hypotonia, lactic acidosis, seizures, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PDHA1 John Christodoulou reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: lactic acidosis, porencephaly, ID, seizures, dystonia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.719 PC John Christodoulou reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301764; Phenotypes: lactic acidosis, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 PAX8 John Christodoulou reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.719 OXCT1 John Christodoulou reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594, PMID: 20652411; Phenotypes: ketoacidosis, hypoglycaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 OTC John Christodoulou reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperammonaemia, encephalopathy, liver failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.719 NPC2 John Christodoulou reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 NPC1 John Christodoulou reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MPI John Christodoulou reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, PMID: 19101627; Phenotypes: hyperinsulinism, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MLYCD John Christodoulou reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28781843, PMID: 20549361; Phenotypes: hypoglycaemia, metabolic acidosis, cardiomyopathy, ID, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 MAN2B1 John Christodoulou reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31222755, PMID: 31241255; Phenotypes: ID, coarse facial features, deafness, dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Marked gene: SLC17A5 as ready
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.719 SLC17A5 Seb Lunke Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile to Sialic acid storage disorder, infantile, MIM# 269920
Genomic newborn screening: BabyScreen+ v0.718 SLC17A5 Seb Lunke Classified gene: SLC17A5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.718 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.717 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Marked gene: SLC16A2 as ready
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.717 SLC16A2 Seb Lunke Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Classified gene: SLC16A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Added comment: Comment on list classification: Not eligible now but have to check back on trial later
Genomic newborn screening: BabyScreen+ v0.716 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke Tag clinical trial tag was added to gene: SLC16A2.
Genomic newborn screening: BabyScreen+ v0.715 SLC16A2 Seb Lunke reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Marked gene: SLC12A6 as ready
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.715 SLC12A6 Seb Lunke Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy to Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800
Genomic newborn screening: BabyScreen+ v0.714 SLC12A6 Seb Lunke Classified gene: SLC12A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.714 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.713 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Marked gene: SLC12A3 as ready
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.713 SLC12A3 Seb Lunke Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome to Gitelman syndrome, MIM# 263800
Genomic newborn screening: BabyScreen+ v0.712 SLC12A3 Seb Lunke Classified gene: SLC12A3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.712 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke Tag for review tag was added to gene: SLC12A3.
Genomic newborn screening: BabyScreen+ v0.711 SLC12A3 Seb Lunke reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Marked gene: SLC12A1 as ready
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Gene: slc12a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.711 SLC12A1 Seb Lunke Phenotypes for gene: SLC12A1 were changed from Bartter syndrome to Bartter syndrome, type 1, MIM# 601678
Genomic newborn screening: BabyScreen+ v0.710 SLC12A1 Seb Lunke reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Marked gene: SKI as ready
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.710 SKI Seb Lunke Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, MIM#182212
Genomic newborn screening: BabyScreen+ v0.709 SKI Seb Lunke Classified gene: SKI as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.709 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.708 SKI Seb Lunke reviewed gene: SKI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Marked gene: SIX3 as ready
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.708 SIX3 Seb Lunke Phenotypes for gene: SIX3 were changed from Holoprosencephaly-2 to Holoprosencephaly 2, MIM# 157170
Genomic newborn screening: BabyScreen+ v0.707 SIX3 Seb Lunke Classified gene: SIX3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.707 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.706 SIX3 Seb Lunke reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Marked gene: SIX1 as ready
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.706 SIX1 Seb Lunke Phenotypes for gene: SIX1 were changed from Branchiootorenal syndrome to Branchiootic syndrome 3, MIM# 608389
Genomic newborn screening: BabyScreen+ v0.705 SIX1 Seb Lunke Classified gene: SIX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.705 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.704 SIX1 Seb Lunke reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Marked gene: SIL1 as ready
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.704 SIL1 Seb Lunke Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, MIM#248800
Genomic newborn screening: BabyScreen+ v0.703 SIL1 Seb Lunke Classified gene: SIL1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.703 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SIL1 Seb Lunke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Marked gene: SI as ready
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Gene: si has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke Tag for review tag was added to gene: SI.
Genomic newborn screening: BabyScreen+ v0.702 SI Seb Lunke reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Marked gene: SHH as ready
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.702 SHH Seb Lunke Phenotypes for gene: SHH were changed from Holoprosencephaly-3 to Holoprosencephaly 3, MIM#142945
Genomic newborn screening: BabyScreen+ v0.701 SHH Seb Lunke Classified gene: SHH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.701 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.700 SHH Seb Lunke reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 3, MIM#142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Marked gene: SHANK3 as ready
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Classified gene: SHANK3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.699 SHANK3 Seb Lunke reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Marked gene: SH3TC2 as ready
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.699 SH3TC2 Seb Lunke Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4C MIM#601596
Genomic newborn screening: BabyScreen+ v0.698 SH3TC2 Seb Lunke Classified gene: SH3TC2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.698 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.697 SH3TC2 Seb Lunke reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Marked gene: SH2D1A as ready
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Gene: sh2d1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.697 SH2D1A Seb Lunke Phenotypes for gene: SH2D1A were changed from Lymphoproliferative syndrome, MIM#308240 to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Genomic newborn screening: BabyScreen+ v0.696 SH2D1A Seb Lunke Publications for gene: SH2D1A were set to
Genomic newborn screening: BabyScreen+ v0.695 SH2D1A Seb Lunke reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Marked gene: SGSH as ready
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.695 SGSH Seb Lunke Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A) to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
Genomic newborn screening: BabyScreen+ v0.694 SGSH Seb Lunke Classified gene: SGSH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.694 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGSH Seb Lunke reviewed gene: SGSH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Marked gene: SGCB as ready
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGCG Seb Lunke Marked gene: SGCG as ready
Genomic newborn screening: BabyScreen+ v0.693 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.693 SGCB Seb Lunke Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Genomic newborn screening: BabyScreen+ v0.692 SGCD Seb Lunke Marked gene: SGCD as ready
Genomic newborn screening: BabyScreen+ v0.692 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.692 SGCG Seb Lunke Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
Genomic newborn screening: BabyScreen+ v0.691 SGCB Seb Lunke Classified gene: SGCB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.691 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.690 SGCD Seb Lunke Classified gene: SGCD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.690 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.689 SGCG Seb Lunke Classified gene: SGCG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.689 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.688 SGCG Seb Lunke reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCD Seb Lunke reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCB Seb Lunke reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Marked gene: SGCA as ready
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.688 SGCA Seb Lunke Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Genomic newborn screening: BabyScreen+ v0.687 SGCA Seb Lunke Classified gene: SGCA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.687 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.686 SGCA Seb Lunke reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.686 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Classified gene: COL11A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.686 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark edited their review of gene: COL11A2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.685 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia to Deafness, autosomal recessive 53, MIM# 609706
Genomic newborn screening: BabyScreen+ v0.684 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Classified gene: COL11A2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.683 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 53, MIM# 609706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.682 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark Tag for review tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.681 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Marked gene: COG5 as ready
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.681 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from Congenital disorder of glycosylation, type IIi to Congenital disorder of glycosylation, type IIi, MIM# 613612
Genomic newborn screening: BabyScreen+ v0.680 COG5 Zornitza Stark Classified gene: COG5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.680 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.679 COG5 Zornitza Stark reviewed gene: COG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.679 OXCT1 Zornitza Stark Tag treatable tag was added to gene: OXCT1.
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Marked gene: OTOGL as ready
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.679 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 84B, MIM# 614944
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark Tag for review tag was added to gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.678 OTOGL Zornitza Stark reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Marked gene: OTOF as ready
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.678 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 9, MIM#601071
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Marked gene: OTOA as ready
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Gene: otoa has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.677 OTOA Zornitza Stark Phenotypes for gene: OTOA were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 22, MIM#607039
Genomic newborn screening: BabyScreen+ v0.676 OTOA Zornitza Stark Tag SV/CNV tag was added to gene: OTOA.
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Marked gene: OTC as ready
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.676 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.676 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 5, MIM#259720
Genomic newborn screening: BabyScreen+ v0.675 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Genomic newborn screening: BabyScreen+ v0.674 OSTM1 Zornitza Stark Classified gene: OSTM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.674 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.673 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.; to: Bi-allelic variants cause either multi-system CDG or congenital myasthenia gravis.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Marked gene: UMOD as ready
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.673 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from Nephropathy to Tubulointerstitial kidney disease MIM#162000
Genomic newborn screening: BabyScreen+ v0.672 UMOD Zornitza Stark Publications for gene: UMOD were set to
Genomic newborn screening: BabyScreen+ v0.671 UMOD Zornitza Stark Classified gene: UMOD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.671 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.670 OXCT1 David Amor reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594; Phenotypes: 245050, Succinyl CoA:3-oxoacid CoA transferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOGL David Amor reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 614944, Deafness, autosomal recessive 84B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOF David Amor reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 601071, Auditory neuropathy, autosomal recessive, 1, AND Deafness, autosomal recessive 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTOA David Amor changed review comment from: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: symptomatic only therefore exclude; to: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: HA, CI.
Genomic newborn screening: BabyScreen+ v0.670 OTOA David Amor reviewed gene: OTOA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 607039, Deafness, autosomal recessive 22; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 OTC David Amor reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 311250 Ornithine transcarbamylase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genomic newborn screening: BabyScreen+ v0.670 OSTM1 David Amor reviewed gene: OSTM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34011644; Phenotypes: 259720 Osteopetrosis, autosomal recessive 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.670 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Genomic newborn screening: BabyScreen+ v0.669 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Genomic newborn screening: BabyScreen+ v0.669 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Genomic newborn screening: BabyScreen+ v0.669 SFTPC Zornitza Stark Tag for review tag was added to gene: SFTPC.
Genomic newborn screening: BabyScreen+ v0.669 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.669 CDH23 Zornitza Stark Tag for review was removed from gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.669 MEN1 Zornitza Stark Classified gene: MEN1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.669 MEN1 Zornitza Stark Gene: men1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.668 MEN1 Zornitza Stark Classified gene: MEN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.668 MEN1 Zornitza Stark Gene: men1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark changed review comment from: For review re age of onset; to: For review re age of onset: surveillance starts age 5, disease onset generally later.
Genomic newborn screening: BabyScreen+ v0.667 MEN1 Zornitza Stark edited their review of gene: MEN1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.667 MEFV Zornitza Stark Tag for review was removed from gene: MEFV.
Tag treatable tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.667 MEFV Zornitza Stark changed review comment from: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

For review.; to: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

Reviewed: only include bi-allelic disease.
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.667 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from Infantile spasms to Nephrotic syndrome, type 15, MIM# 617609
Genomic newborn screening: BabyScreen+ v0.666 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.665 MAGI2 Zornitza Stark Classified gene: MAGI2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.665 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.664 MAGI2 Zornitza Stark Tag for review was removed from gene: MAGI2.
Genomic newborn screening: BabyScreen+ v0.664 LRP5 Zornitza Stark Tag for review was removed from gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.664 LRP5 Zornitza Stark changed review comment from: Gene is associated with multiple phenotypes.

Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood.

Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear.

For review.; to: Gene is associated with multiple phenotypes.

Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood.

Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear.

For review: only include bi-allelic disease.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark Tag for review was removed from gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.664 FUCA1 Zornitza Stark changed review comment from: Non-genetic confirmatory testing: fucosidase activity in serum or plasma

For review regarding utility of BMT.; to: Non-genetic confirmatory testing: fucosidase activity in serum or plasma

For review regarding utility of BMT: include, uncertain if pre-symptomatic BMT may have better outcomes than currently reported.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark Tag for review was removed from gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.664 ETFB Zornitza Stark changed review comment from: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis; to: Well established gene-disease association.

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

The heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.

Treatment: riboflavin, carnitine, glycine, Coenzyme Q10 supplementation, fat restriction, avoidance of fasting, and a diet rich in carbohydrates

Non-genetic confirmatory tests: plasma acylcarnitine profile, urine organic acid analysis

Predominantly neonatal onset.
Genomic newborn screening: BabyScreen+ v0.664 LRP4 Zornitza Stark Classified gene: LRP4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.664 LRP4 Zornitza Stark Gene: lrp4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.663 LRP4 Zornitza Stark Tag for review was removed from gene: LRP4.
Genomic newborn screening: BabyScreen+ v0.663 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.662 LDLR Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.; to: ClinGen: 'strong actionability' in paediatric patients.

For review as clinical manifestations are typically in adulthood. Statin therapy is recommended to be initiated as early as 8-12 years of age. However, there is also a severe, bi-allelic form with onset in early childhood.

Elevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis. In natural history studies, 50% of males and 25% of females with FH develop clinical CVD by age 50 years, but up to 10% can have severe premature CVD by 40 years of age. On average, individuals with HeFH experience their first coronary event at age 42, 20 years younger than the general population. Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment.

Include bi-allelic disease in gNBS. Continue considering if and when mono-allelic disease should be included.
Genomic newborn screening: BabyScreen+ v0.662 LDLR Zornitza Stark edited their review of gene: LDLR: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.662 L1CAM Zornitza Stark Tag for review was removed from gene: L1CAM.
Genomic newborn screening: BabyScreen+ v0.662 G6PD Zornitza Stark Tag review was removed from gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.662 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from Congenital heart defects to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark Tag for review was removed from gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.661 GATA4 Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark Tag for review was removed from gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.661 FLAD1 Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported.

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment.

For discussion. Included as a treatable disorder in rx-genes.

Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,; to: Well established gene-disease association, more than 10 families reported.

The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment.

Included as a treatable disorder in rx-genes.

Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark Tag for review was removed from gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.661 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

For review.; to: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

Difficult to predict phenotype from genotype but MG may be responsive to treatment.

Phenotype may already be apparent in newborn period so clinical correlation possible.
Genomic newborn screening: BabyScreen+ v0.661 COQ8B Zornitza Stark Classified gene: COQ8B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.661 COQ8B Zornitza Stark Gene: coq8b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.660 COQ8B Zornitza Stark changed review comment from: Well established gene-disease association.

Disease onset typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life.

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset; to: Well established gene-disease association.

Disease onset typically between ages 10 and 20 years, although several had earlier onset, including 1 patient with onset in the first year of life.

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset -- predominantly later onset, so not included
Genomic newborn screening: BabyScreen+ v0.660 COQ8B Zornitza Stark edited their review of gene: COQ8B: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.660 UMOD Lilian Downie reviewed gene: UMOD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301530; Phenotypes: Tubulointerstitial kidney disease MIM#162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.660 UNC13D Lilian Downie reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301617; Phenotypes: Hemophagocytic lymphohistiocytosis MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.660 UROD Lilian Downie reviewed gene: UROD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24175354, PMID: 17360334; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Marked gene: COCH as ready
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.660 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal recessive 110, MIM# 618094
Genomic newborn screening: BabyScreen+ v0.659 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.658 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.658 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from Achromatopsia-3 to Achromatopsia 3, MIM# 262300
Genomic newborn screening: BabyScreen+ v0.657 CNGB3 Zornitza Stark Classified gene: CNGB3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.657 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).