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Genomic newborn screening: BabyScreen+ v0.1950 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1950 FCHO1 Zornitza Stark Classified gene: FCHO1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1950 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1949 FCHO1 Zornitza Stark edited their review of gene: FCHO1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1949 FCHO1 Zornitza Stark gene: FCHO1 was added
gene: FCHO1 was added to Baby Screen+ newborn screening. Sources: Expert list
treatable, immunological tags were added to gene: FCHO1.
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32098969; 30822429
Phenotypes for gene: FCHO1 were set to Immunodeficiency 76, MIM# 619164
Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.

Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile, immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1948 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Genomic newborn screening: BabyScreen+ v0.1948 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1948 FAM111A Zornitza Stark Classified gene: FAM111A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1948 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1947 FAM111A Zornitza Stark Tag treatable tag was added to gene: FAM111A.
Tag skeletal tag was added to gene: FAM111A.
Genomic newborn screening: BabyScreen+ v0.1947 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000
Review for gene: FAM111A was set to GREEN
Added comment: Condition is characterised by impaired skeletal development with small and dense bones, short stature, ocular abnormalities, and primary hypoparathyroidism with hypocalcemia. At least 10 unrelated cases reported with de novo missense variants. Intellectual disability/developmental delay is a rare feature of the condition.

Treatment: magnesium, calcium and calcitriol or alfacalcidol

Non-genetic confirmatory testing: serum calcium, parathyroid hormone level, calcitonin level
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1946 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Genomic newborn screening: BabyScreen+ v0.1946 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1946 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1946 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1945 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Baby Screen+ newborn screening. Sources: Expert Review
treatable, haematological tags were added to gene: ERCC6L2.
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Review for gene: ERCC6L2 was set to AMBER
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, but two with the same truncating variant, founder effect likely.

Treatment: bone marrow transplant.

Amber rating due to limited number of families reported.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1944 DOCK2 Zornitza Stark Marked gene: DOCK2 as ready
Genomic newborn screening: BabyScreen+ v0.1944 DOCK2 Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1944 DOCK2 Zornitza Stark Tag treatable tag was added to gene: DOCK2.
Tag immunological tag was added to gene: DOCK2.
Genomic newborn screening: BabyScreen+ v0.1944 DOCK2 Zornitza Stark Classified gene: DOCK2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1944 DOCK2 Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1943 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK2 were set to 26083206; 29204803; 33928462; 30826364; 30838481; 11518968
Phenotypes for gene: DOCK2 were set to Immunodeficiency 40 MIM# 616433
Review for gene: DOCK2 was set to GREEN
Added comment: 13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues) All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1942 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Genomic newborn screening: BabyScreen+ v0.1942 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1942 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1942 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1941 DNASE2 Zornitza Stark Tag treatable tag was added to gene: DNASE2.
Tag immunological tag was added to gene: DNASE2.
Genomic newborn screening: BabyScreen+ v0.1941 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM# 619858
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.

Treatment: baricitinib

Non-genetic confirmatory testing: Interferon signature
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1940 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Genomic newborn screening: BabyScreen+ v0.1940 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1940 DNAJC21 Zornitza Stark Tag treatable tag was added to gene: DNAJC21.
Tag haematological tag was added to gene: DNAJC21.
Genomic newborn screening: BabyScreen+ v0.1940 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1940 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1939 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
Review for gene: DNAJC21 was set to GREEN
Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies.

Treatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, bone marrow transplant

Confirmatory non-genetic testing: no; FBE as pancytopenia evolves.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1938 CYP2R1 Zornitza Stark Marked gene: CYP2R1 as ready
Genomic newborn screening: BabyScreen+ v0.1938 CYP2R1 Zornitza Stark Gene: cyp2r1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1938 CYP2R1 Zornitza Stark Tag treatable tag was added to gene: CYP2R1.
Tag endocrine tag was added to gene: CYP2R1.
Genomic newborn screening: BabyScreen+ v0.1938 CYP2R1 Zornitza Stark Classified gene: CYP2R1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1938 CYP2R1 Zornitza Stark Gene: cyp2r1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1937 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 15128933; 28548312
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Review for gene: CYP2R1 was set to GREEN
Added comment: At least 6 unrelated families reported.

Onset is generally in infancy.

Good response to vitamin D (calcifediol (25_OH_D3).

Confirmatory non-genetic testing: serum calcium, parathyroid hormone, 25-hydroxy vitamin D levels
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1936 C17orf62 Zornitza Stark Marked gene: C17orf62 as ready
Genomic newborn screening: BabyScreen+ v0.1936 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1936 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1936 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1935 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Baby Screen+ newborn screening. Sources: Expert Review
new gene name, treatable, immunological tags were added to gene: C17orf62.
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name)

Primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Haematopoietic bone marrow transplant is curative.

Non-genetic confirmatory assay: dihydrorhodamine assay
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1934 CYB561 Zornitza Stark Marked gene: CYB561 as ready
Genomic newborn screening: BabyScreen+ v0.1934 CYB561 Zornitza Stark Gene: cyb561 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1934 CYB561 Zornitza Stark Classified gene: CYB561 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1934 CYB561 Zornitza Stark Gene: cyb561 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1933 CYB561 Zornitza Stark Tag treatable tag was added to gene: CYB561.
Tag endocrine tag was added to gene: CYB561.
Genomic newborn screening: BabyScreen+ v0.1933 CYB561 Zornitza Stark gene: CYB561 was added
gene: CYB561 was added to Baby Screen+ newborn screening. Sources: Expert list
Mode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYB561 were set to 29343526; 31822578
Phenotypes for gene: CYB561 were set to Orthostatic hypotension 2, MIM# 618182
Review for gene: CYB561 was set to GREEN
Added comment: Three families reported.

Severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood.

Treatment: L-threo-3,4-dihydroxyphenylserine (droxidopa)

Non-genetic confirmatory testing: plasma norepinephrine, epinephrine, dopamine
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1932 Zornitza Stark Panel name changed from gNBS to Baby Screen+ newborn screening
Panel status changed from internal to public
Genomic newborn screening: BabyScreen+ v0.1931 CR2 Zornitza Stark Marked gene: CR2 as ready
Genomic newborn screening: BabyScreen+ v0.1931 CR2 Zornitza Stark Gene: cr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1931 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from Hypogammaglobulinaemia to Immunodeficiency, common variable, 7, MIM# 614699
Genomic newborn screening: BabyScreen+ v0.1930 CR2 Zornitza Stark Tag treatable tag was added to gene: CR2.
Tag immunological tag was added to gene: CR2.
Genomic newborn screening: BabyScreen+ v0.1930 CR2 Zornitza Stark reviewed gene: CR2: Rating: RED; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1930 CORO1A Zornitza Stark Marked gene: CORO1A as ready
Genomic newborn screening: BabyScreen+ v0.1930 CORO1A Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1930 CORO1A Zornitza Stark Classified gene: CORO1A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1930 CORO1A Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1929 CORO1A Zornitza Stark gene: CORO1A was added
gene: CORO1A was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CORO1A were set to Immunodeficiency 8 MIM# 615401
Review for gene: CORO1A was set to GREEN
Added comment: 3 unrelated families and 1 unrelated individual reported with bi-allelic (deletion, missense, insertion) variants, resulting in premature stop codons and truncated protein/ alter a highly conserved residue in binding domain; one mouse model

All patients displayed T−B+NK+ SCID or CID presenting in early-onset recurrent infections and additional features that included EBV-associated lymphoproliferative disease and low immunoglobulin levels.

Congenital onset.

Treatment: bone marrow transplant

Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1928 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Genomic newborn screening: BabyScreen+ v0.1928 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1928 CDCA7 Zornitza Stark Classified gene: CDCA7 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1928 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1927 CDCA7 Zornitza Stark Tag treatable tag was added to gene: CDCA7.
Tag immunological tag was added to gene: CDCA7.
Genomic newborn screening: BabyScreen+ v0.1927 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Congenital onset, severe disorder. At least 4 unrelated families reported.

Treatment: replacement immunoglobulins, bone marrow transplant

Non-genetic confirmatory testing: immunoglobulin levels, cytogenetic analysis for centromeric instability, DNA methylation studies
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1926 CD81 Zornitza Stark Marked gene: CD81 as ready
Genomic newborn screening: BabyScreen+ v0.1926 CD81 Zornitza Stark Gene: cd81 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1926 CD81 Zornitza Stark Tag treatable tag was added to gene: CD81.
Tag immunological tag was added to gene: CD81.
Genomic newborn screening: BabyScreen+ v0.1926 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD81 were set to 20237408
Phenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, MIM# 613496
Review for gene: CD81 was set to RED
Added comment: CVID, which would be congenital, severe and treatable with replacement immunoglobulins.

However, only a single individual reported.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1925 CD70 Zornitza Stark Marked gene: CD70 as ready
Genomic newborn screening: BabyScreen+ v0.1925 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1925 CD70 Zornitza Stark Classified gene: CD70 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1925 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1924 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261
Review for gene: CD70 was set to GREEN
Added comment: Severe lymphoproliferation following EBV infection.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1923 CD55 Zornitza Stark Marked gene: CD55 as ready
Genomic newborn screening: BabyScreen+ v0.1923 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1923 CD55 Zornitza Stark Classified gene: CD55 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1923 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1922 CD55 Zornitza Stark Tag treatable tag was added to gene: CD55.
Tag immunological tag was added to gene: CD55.
Genomic newborn screening: BabyScreen+ v0.1922 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD55 were set to 33398182
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Review for gene: CD55 was set to GREEN
Added comment: Severe congenital disorder, high mortality.

Treatment: Eculizumab

Non-genetic confirmatory testing: albumin level, immunoglobulin level
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1921 CD40 Zornitza Stark Marked gene: CD40 as ready
Genomic newborn screening: BabyScreen+ v0.1921 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1921 CD40 Zornitza Stark Marked gene: CD40 as ready
Genomic newborn screening: BabyScreen+ v0.1921 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1921 CD40 Zornitza Stark Classified gene: CD40 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1921 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1920 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD40 were set to 29884852
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Review for gene: CD40 was set to GREEN
Added comment: Severity can be variable but generally congenital onset, and predisposition to severe infections. Note CD40L already included.

Treatment: bone marrow transplantation.

Non-genetic confirmatory testing: immunoglobulin levels, flow cytometric analysis
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1919 CD3G Zornitza Stark Marked gene: CD3G as ready
Genomic newborn screening: BabyScreen+ v0.1919 CD3G Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1919 CD3G Zornitza Stark Classified gene: CD3G as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1919 CD3G Zornitza Stark Gene: cd3g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1918 CD3G Zornitza Stark edited their review of gene: CD3G: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1918 CD3G Zornitza Stark Tag treatable tag was added to gene: CD3G.
Tag immunological tag was added to gene: CD3G.
Genomic newborn screening: BabyScreen+ v0.1918 CD3G Zornitza Stark gene: CD3G was added
gene: CD3G was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD3G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD3G were set to 31921117
Phenotypes for gene: CD3G were set to Immunodeficiency 17; CD3 gamma deficient MIM# 615607
Added comment: 10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.

All individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.

Congenital onset.

Treatment: replacement immunoglobulin

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1917 CD27 Zornitza Stark Marked gene: CD27 as ready
Genomic newborn screening: BabyScreen+ v0.1917 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1917 CD27 Zornitza Stark Classified gene: CD27 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1917 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1916 CD27 Zornitza Stark Tag treatable tag was added to gene: CD27.
Tag immunological tag was added to gene: CD27.
Genomic newborn screening: BabyScreen+ v0.1916 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD27 were set to 22197273; 22801960; 22365582; 25843314; 11062504
Phenotypes for gene: CD27 were set to CD27-deficiency MIM# 615122
Review for gene: CD27 was set to GREEN
Added comment: 17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model. Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic or display borderline-low hypogammaglobulinaemia.

Treatment: replacement immunoglobulin treatment, rituximab, Bone marrow transplant.

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1915 CD247 Zornitza Stark Marked gene: CD247 as ready
Genomic newborn screening: BabyScreen+ v0.1915 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1915 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1915 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1914 CD247 Zornitza Stark Tag treatable tag was added to gene: CD247.
Tag immunological tag was added to gene: CD247.
Genomic newborn screening: BabyScreen+ v0.1914 CD247 Zornitza Stark gene: CD247 was added
gene: CD247 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD247 were set to 16672702; 17170122
Phenotypes for gene: CD247 were set to Immunodeficiency 25, MIM# 610163
Review for gene: CD247 was set to GREEN
Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.

Congenital onset. Absent T cells, resulting in severe immunodeficiency.

Treatment: bone marrow transplant.

Non-genetic confirmatory testing: T, B and NK cell counts
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1913 CD19 Zornitza Stark Marked gene: CD19 as ready
Genomic newborn screening: BabyScreen+ v0.1913 CD19 Zornitza Stark Gene: cd19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1913 CD19 Zornitza Stark Tag treatable tag was added to gene: CD19.
Tag immunological tag was added to gene: CD19.
Genomic newborn screening: BabyScreen+ v0.1913 CD19 Zornitza Stark Classified gene: CD19 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1913 CD19 Zornitza Stark Gene: cd19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1912 CD19 Zornitza Stark gene: CD19 was added
gene: CD19 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CD19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD19 were set to Immunodeficiency, common variable, 3, MIM# 613493
Review for gene: CD19 was set to GREEN
Added comment: More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.

Onset is congenital.

Treatment: IVIG

Non-genetic confirmatory testing: immunoglobulin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1911 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Genomic newborn screening: BabyScreen+ v0.1911 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1911 CAV1 Zornitza Stark Classified gene: CAV1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1911 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1910 CAV1 Zornitza Stark Tag treatable tag was added to gene: CAV1.
Tag metabolic tag was added to gene: CAV1.
Genomic newborn screening: BabyScreen+ v0.1910 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAV1 were set to 29704234
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, MIM# 612526
Review for gene: CAV1 was set to GREEN
Added comment: Established gene-disease association.

Bi-allelic disease is more severe. Onset is congenital.

Treatment: metreleptin

Non-genetic confirmatory testing: leptin levels
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1908 PRDX1 Zornitza Stark Marked gene: PRDX1 as ready
Genomic newborn screening: BabyScreen+ v0.1908 PRDX1 Zornitza Stark Gene: prdx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1908 PRDX1 Zornitza Stark Classified gene: PRDX1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1908 PRDX1 Zornitza Stark Gene: prdx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1907 PRDX1 Zornitza Stark Tag for review tag was added to gene: PRDX1.
Genomic newborn screening: BabyScreen+ v0.1907 PNP Zornitza Stark Marked gene: PNP as ready
Genomic newborn screening: BabyScreen+ v0.1907 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1907 PNP Zornitza Stark Tag treatable tag was added to gene: PNP.
Tag immunological tag was added to gene: PNP.
Genomic newborn screening: BabyScreen+ v0.1907 PNP Zornitza Stark Classified gene: PNP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1907 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1906 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Genomic newborn screening: BabyScreen+ v0.1906 MTHFR Zornitza Stark Gene: mthfr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1906 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency to Homocystinuria due to MTHFR deficiency MIM#236250
Genomic newborn screening: BabyScreen+ v0.1905 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Genomic newborn screening: BabyScreen+ v0.1904 MTHFR Zornitza Stark Classified gene: MTHFR as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1904 MTHFR Zornitza Stark Gene: mthfr has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1903 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Genomic newborn screening: BabyScreen+ v0.1903 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1903 MCCC2 Zornitza Stark Phenotypes for gene: MCCC2 were changed from 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM# 210210 to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210
Genomic newborn screening: BabyScreen+ v0.1902 MCCC2 Zornitza Stark Publications for gene: MCCC2 were set to
Genomic newborn screening: BabyScreen+ v0.1901 MCCC2 Zornitza Stark reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1901 MCCC1 Zornitza Stark Marked gene: MCCC1 as ready
Genomic newborn screening: BabyScreen+ v0.1901 MCCC1 Zornitza Stark Gene: mccc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1901 MCCC1 Zornitza Stark Phenotypes for gene: MCCC1 were changed from 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM# 210200 to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200
Genomic newborn screening: BabyScreen+ v0.1900 MCCC1 Zornitza Stark Publications for gene: MCCC1 were set to
Genomic newborn screening: BabyScreen+ v0.1899 MCCC1 Zornitza Stark Classified gene: MCCC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1899 MCCC1 Zornitza Stark Gene: mccc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1898 MCCC1 Zornitza Stark reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1898 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Genomic newborn screening: BabyScreen+ v0.1898 MAT1A Zornitza Stark Gene: mat1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1898 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1897 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from Methionine adenosyltransferase deficiency to Methionine adenosyltransferase deficiency MIM#250850
Genomic newborn screening: BabyScreen+ v0.1896 LIAS Zornitza Stark Marked gene: LIAS as ready
Genomic newborn screening: BabyScreen+ v0.1896 LIAS Zornitza Stark Gene: lias has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1896 LIAS Zornitza Stark Publications for gene: LIAS were set to PMID: 24334290, 24777537,
Genomic newborn screening: BabyScreen+ v0.1895 LIAS Zornitza Stark Source Expert list was removed from LIAS.
Source Expert Review was added to LIAS.
Rating Changed from No List (delete) to Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1894 LIAS Zornitza Stark All sources for gene: LIAS were removed
Genomic newborn screening: BabyScreen+ v0.1893 LIAS Zornitza Stark All sources for gene: LIAS were removed
Genomic newborn screening: BabyScreen+ v0.1892 LIAS Zornitza Stark Classified gene: LIAS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1892 LIAS Zornitza Stark Gene: lias has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1891 HPD Zornitza Stark Marked gene: HPD as ready
Genomic newborn screening: BabyScreen+ v0.1891 HPD Zornitza Stark Gene: hpd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1891 HPD Zornitza Stark Publications for gene: HPD were set to
Genomic newborn screening: BabyScreen+ v0.1890 HPD Zornitza Stark reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type III MIM#276710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1890 HIBCH Zornitza Stark Tag for review tag was added to gene: HIBCH.
Genomic newborn screening: BabyScreen+ v0.1890 HMGCS2 Zornitza Stark Marked gene: HMGCS2 as ready
Genomic newborn screening: BabyScreen+ v0.1890 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1890 HMGCS2 Zornitza Stark Classified gene: HMGCS2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1890 HMGCS2 Zornitza Stark Gene: hmgcs2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1889 HMGCS2 Zornitza Stark Tag for review tag was added to gene: HMGCS2.
Tag treatable tag was added to gene: HMGCS2.
Tag metabolic tag was added to gene: HMGCS2.
Genomic newborn screening: BabyScreen+ v0.1889 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA synthase-2 deficiency MIM#605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1889 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Genomic newborn screening: BabyScreen+ v0.1889 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1889 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from Neurodegeneration, progressive infantile to 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620
Genomic newborn screening: BabyScreen+ v0.1888 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Genomic newborn screening: BabyScreen+ v0.1887 HIBCH Zornitza Stark Tag treatable tag was added to gene: HIBCH.
Tag metabolic tag was added to gene: HIBCH.
Genomic newborn screening: BabyScreen+ v0.1887 HIBCH Zornitza Stark Classified gene: HIBCH as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1887 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1886 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Genomic newborn screening: BabyScreen+ v0.1886 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1886 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199 to Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199
Genomic newborn screening: BabyScreen+ v0.1885 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Genomic newborn screening: BabyScreen+ v0.1884 GLIS3 Zornitza Stark Classified gene: GLIS3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1884 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1883 GLIS3 Zornitza Stark Tag treatable tag was added to gene: GLIS3.
Tag endocrine tag was added to gene: GLIS3.
Genomic newborn screening: BabyScreen+ v0.1883 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1883 PRDX1 Lilian Rudd gene: PRDX1 was added
gene: PRDX1 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: PRDX1 was set to Other
Publications for gene: PRDX1 were set to PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424
Phenotypes for gene: PRDX1 were set to Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400
Review for gene: PRDX1 was set to GREEN
Added comment: Digenic inheritance with mutation in other allele of MMACHC
On GUARDIAN and Rx genes list

Recently, three individuals who are double heterozygous for pathogenic variants in MMACHC and PRDX1 have been identified. PRDX1 is a neighboring gene on chromosome 1 transcribed from the reverse strand. Variants identified in PRDX1 located at the intron 5 splice acceptor site caused skipping of exon 6, transcription of antisense MMACHC, and hypermethylation of the MMACHC promoter/exon 1, resulting in no gene expression from that allele [Guéant et al 2018].

Treatable with cobalamin, carnitine & diet. NB MMACHC is green on our list, on newborn screening.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1883 PNP Lilian Rudd gene: PNP was added
gene: PNP was added to gNBS. Sources: Expert list
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to PMID: 35968787, PMID: 35063692, PMID: 30885031, PMID: 1931007, PMID: 28674683
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179
Review for gene: PNP was set to GREEN
Added comment: Decreased T cell function - SCID immunodeficiency
variable neurological phenotype
childhood onset
Treat bone marrow transplant
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1883 MTHFR Lilian Rudd reviewed gene: MTHFR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34214447; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1883 MCCC2 Lilian Rudd reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22642865; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1883 GATM Zornitza Stark Tag treatable tag was added to gene: GATM.
Tag metabolic tag was added to gene: GATM.
Genomic newborn screening: BabyScreen+ v0.1883 GATM Zornitza Stark Marked gene: GATM as ready
Genomic newborn screening: BabyScreen+ v0.1883 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1883 GATM Zornitza Stark Classified gene: GATM as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1883 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1882 GATM Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301745; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM#612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1882 FOXE1 Zornitza Stark Marked gene: FOXE1 as ready
Genomic newborn screening: BabyScreen+ v0.1882 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1882 FOXE1 Zornitza Stark Phenotypes for gene: FOXE1 were changed from Bamforth-Lazarus syndrome to Bamforth-Lazarus syndrome MIM# 241850
Genomic newborn screening: BabyScreen+ v0.1881 FOXE1 Zornitza Stark Publications for gene: FOXE1 were set to
Genomic newborn screening: BabyScreen+ v0.1880 FOXE1 Zornitza Stark Classified gene: FOXE1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1880 FOXE1 Zornitza Stark Gene: foxe1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1879 FOXE1 Zornitza Stark Tag treatable tag was added to gene: FOXE1.
Tag endocrine tag was added to gene: FOXE1.
Tag deafness tag was added to gene: FOXE1.
Genomic newborn screening: BabyScreen+ v0.1879 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Genomic newborn screening: BabyScreen+ v0.1879 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1879 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from Hyperprolinemia, type II to Hyperprolinemia, type II MIM#239510
Genomic newborn screening: BabyScreen+ v0.1878 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to
Genomic newborn screening: BabyScreen+ v0.1877 ALDH4A1 Zornitza Stark Classified gene: ALDH4A1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1877 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1876 ALDH4A1 Zornitza Stark Tag treatable tag was added to gene: ALDH4A1.
Tag metabolic tag was added to gene: ALDH4A1.
Genomic newborn screening: BabyScreen+ v0.1876 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperprolinemia, type II MIM#239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1876 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Genomic newborn screening: BabyScreen+ v0.1876 ACADSB Zornitza Stark Gene: acadsb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1876 ACADSB Zornitza Stark Phenotypes for gene: ACADSB were changed from 2-Methylbutyryl-CoA dehydrogenase deficiency to 2-methylbutyrylglycinuria MIM#610006
Genomic newborn screening: BabyScreen+ v0.1875 ACADS Zornitza Stark Marked gene: ACADS as ready
Genomic newborn screening: BabyScreen+ v0.1875 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1875 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Genomic newborn screening: BabyScreen+ v0.1875 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1875 ABCD4 Zornitza Stark Phenotypes for gene: ABCD4 were changed from MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE; Methylmalonic aciduria and homocystinuria, cblJ type to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Genomic newborn screening: BabyScreen+ v0.1874 ABCD4 Zornitza Stark Publications for gene: ABCD4 were set to
Genomic newborn screening: BabyScreen+ v0.1873 ABCD4 Zornitza Stark Classified gene: ABCD4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1873 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1872 ABCD4 Zornitza Stark reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22922874, 30651581, 28572511, 31113616; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 MCCC1 Lilian Rudd reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22642865; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 MAT1A Lilian Rudd reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methionine adenosyltransferase deficiency MIM#250850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 LIAS Lilian Rudd gene: LIAS was added
gene: LIAS was added to gNBS. Sources: Expert list
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIAS were set to PMID: 24334290, 24777537,
Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures MIM#614462
Review for gene: LIAS was set to RED
Added comment: pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
increased serum glycine and lactate in the first days of life, hypotonia, seizures, early death
No treatment
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1872 HPD Lilian Rudd reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 9343288, PMID: 11916315, PMID: 32520295; Phenotypes: Tyrosinemia, type III MIM#276710; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 HMGCS2 Lilian Rudd gene: HMGCS2 was added
gene: HMGCS2 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to PMID: 32259399, 32470406
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911
Penetrance for gene: HMGCS2 were set to Incomplete
Review for gene: HMGCS2 was set to AMBER
Added comment: Metabolic disorder; patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting. Recover completely between illnesses, do develop fatty liver.
?incomplete penetrance or variable age of onset
On GUARDIAN and Rx Genes
Rx IV glucose during acute episodes, avoid prolonged fasting
Metabolic parameters are normal in between episodes, so no ability to do a confirmatory biochemical test.
Pros: readily treatable if child has an episode Cons: unncessary worry as child may never have episode
Super rare ?30 cases
Discuss with JC?
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1872 HIBCH Lilian Rudd reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32642440, PMID: 17160907, PMID: 27400804; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 GLIS3 Lilian Rudd reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29406006, 29992946, 27899417, PMID: 26259131; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 GATM Lilian Rudd gene: GATM was added
gene: GATM was added to gNBS. Sources: Expert list
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to PMID: 20301745, 34972654
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718
Review for gene: GATM was set to GREEN
Added comment: GUARDIAN gene list (not on babyseq or rxgenes)
ID and myopathy, early onset
Rx creatine
Seems like a good fit? I'm not clear from the literature how effective the treatment is. check with JC
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1872 FOXE1 Lilian Rudd reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, 2918525, 20453517, 35963604; Phenotypes: Bamforth-Lazarus syndrome MIM# 241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 ALDH4A1 Lilian Rudd reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31884946, 34037900, 30930802, 34302426; Phenotypes: Hyperprolinemia, type II MIM#239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 ACADSB Lilian Rudd reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-methylbutyrylglycinuria MIM#610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 ACADS Lilian Rudd reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 ABCD4 Lilian Rudd reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22922874, PMID: 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1872 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Genomic newborn screening: BabyScreen+ v0.1872 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1872 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from Cardiomyopathy; Metabolic Crises; Arrhythmia; Neurodevelopmental to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Genomic newborn screening: BabyScreen+ v0.1871 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1871 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1870 TANGO2 Zornitza Stark Tag treatable tag was added to gene: TANGO2.
Tag metabolic tag was added to gene: TANGO2.
Genomic newborn screening: BabyScreen+ v0.1870 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease, MIM# 300257 to Danon disease, MIM# 300257
Genomic newborn screening: BabyScreen+ v0.1869 LAMP2 Zornitza Stark Classified gene: LAMP2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1869 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1868 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Genomic newborn screening: BabyScreen+ v0.1868 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1868 NKX2-5 Zornitza Stark Phenotypes for gene: NKX2-5 were changed from Congenital heart disease to Atrial septal defect 7, with or without AV conduction defects, MIM# 108900
Genomic newborn screening: BabyScreen+ v0.1867 NKX2-5 Zornitza Stark Tag cardiac tag was added to gene: NKX2-5.
Genomic newborn screening: BabyScreen+ v0.1867 NKX2-5 Zornitza Stark Classified gene: NKX2-5 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1867 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1866 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 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+ v0.1865 HADHA Ari Horton reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31575911; Phenotypes: Cardiomyopathy, Metabolic Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1865 TANGO2 Ari Horton changed review comment from: Folate may assist with TANGO2
DOI: https://doi.org/10.21203/rs.3.rs-1778084/v1

While chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD

Fasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY

Natural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias

Specific diet and fasting plans are recommended for all patients from the neonatal period
Sources: Expert Review; to: Folate may assist with TANGO2
DOI: https://doi.org/10.21203/rs.3.rs-1778084/v1

PMID: 35568137

While chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD

Fasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY

Natural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias

Twenty-seven children were admitted for 43 cardiac crises (median age 6.4 years; interquartile range [IQR] 2.4–9.8 years) at 14 centers. During crisis, QTc prolongation occurred in all (median 547 ms; IQR 504–600 ms) and a type I Brugada pattern in 8 (26%). Arrhythmias included VT in 21 (78%), supraventricular tachycardia in 3 (11%), and heart block in 1 (4%). Nineteen patients (70%) developed cardiomyopathy, and 20 (74%) experienced a cardiac arrest. There were 10 deaths (37%), 6 related to arrhythmias. In 5 patients, recalcitrant VT occurred despite use of antiarrhythmic drugs. In 6 patients, arrhythmias were controlled after extracorporeal membrane oxygenation (ECMO) support; 5 of these patients survived. Among 10 patients who survived VT without ECMO, successful treatment included intravenous magnesium, isoproterenol, and atrial pacing in multiple cases and verapamil in 1 patient. Initiation of feeds seemed to decrease VT events.

Specific diet and fasting plans are recommended for all patients from the neonatal period
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1865 TANGO2 Ari Horton gene: TANGO2 was added
gene: TANGO2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Cardiomyopathy; Metabolic Crises; Arrhythmia; Neurodevelopmental
Penetrance for gene: TANGO2 were set to Complete
Review for gene: TANGO2 was set to GREEN
Added comment: Folate may assist with TANGO2
DOI: https://doi.org/10.21203/rs.3.rs-1778084/v1

While chronic symptoms are predominantly neurodevelopmental, metabolic stressors such as fasting, dehydration, illness, and excessive heat can trigger episodic metabolic crises characterized by encephalopathy, ataxia, muscle weakness, rhabdomyolysis, and hypoglycemia. During these events, patients can develop acute life-threatening cardiac arrhythmias. Arrhythmias typically initiate with isolated premature ventricular contractions (PVC) followed by recalcitrant ventricular tachycardia. Because these lethal arrhythmias usually do not respond to standard antiarrhythmic therapies, cardiac arrhythmias are the leading cause of death in TDD

Fasting and feeding recommendations to reduce crises and improve cardiac status and neurodev outcomes, reduce risk of cardiac arrhythmias and SCDY

Natural history study (ClinicalTrials.gov Identifier: NCT05374616) strongly suggests that subjects on a multivitamin or a Bcomplex vitamin supplement have a greatly reduced risk for metabolic crises and cardiac arrhythmias

Specific diet and fasting plans are recommended for all patients from the neonatal period
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1865 LAMP2 Ari Horton reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood onset cardiomyopathy (Severe), Neuordevelopmental phenotype; 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+ v0.1865 NKX2-5 Ari Horton reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neonatal onset cardiomyopathy, Congenital Heart Disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.1865 GATA4 Ari Horton reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, Congenital Heart Disease, Arrhythmia, Extra-cardiac Manifestations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genomic newborn screening: BabyScreen+ v0.1865 ACTA2 Ari Horton reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1865 MCFD2 Zornitza Stark Classified gene: MCFD2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1865 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1864 MCFD2 Zornitza Stark changed review comment from: Reviewed with Meg Wall, haematologist.
Treatable, including with prophylactic DDAVP, include.; to: Reviewed with Meg Wall, haematologist.
Treatable, including with prophylactic DDAVP; however, generally mild, therefore exclude.
Genomic newborn screening: BabyScreen+ v0.1864 MCFD2 Zornitza Stark edited their review of gene: MCFD2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1864 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Sickle cell anaemia, MIM# 603903; Thalassaemia, beta, MIM# 613985 to Sickle cell anaemia, MIM# 603903
Genomic newborn screening: BabyScreen+ v0.1863 HBB Zornitza Stark edited their review of gene: HBB: Changed phenotypes: Sickle cell anaemia, MIM# 603903
Genomic newborn screening: BabyScreen+ v0.1863 RUNX1 Zornitza Stark Classified gene: RUNX1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1863 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1862 RUNX1 Zornitza Stark edited their review of gene: RUNX1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1862 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Genomic newborn screening: BabyScreen+ v0.1862 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1862 MCFD2 Zornitza Stark Tag for review was removed from gene: MCFD2.
Tag treatable tag was added to gene: MCFD2.
Genomic newborn screening: BabyScreen+ v0.1862 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1862 HBB Zornitza Stark Tag for review was removed from gene: HBB.
Genomic newborn screening: BabyScreen+ v0.1862 HBB Zornitza Stark changed review comment from: Well established gene-disease associations.

Congenital onset.

Both sickle cell anaemia and beta thalassaemia are treatable disorders.

Beta thal: gene therapy (betibeglogene autotemcel - clinical trial), red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), Luspatercept

Sickle cell: glutamine, voxelotor, crizanlizumab, hydroxyurea, ,red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), gene therapy (BCH-BB694 BCL11A shmiR lentiviral vector - clinical trial and autologous CRISPR-Cas9-edited CD34+ hematopoietic stem and progenitor cells) - clinical trial)

Some of the beta-that variants are structural -- ability to detect reliably? For review.; to: Well established gene-disease associations.

Congenital onset.

Both sickle cell anaemia and beta thalassaemia are treatable disorders.

Beta thal: gene therapy (betibeglogene autotemcel - clinical trial), red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), Luspatercept

Sickle cell: glutamine, voxelotor, crizanlizumab, hydroxyurea, ,red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), gene therapy (BCH-BB694 BCL11A shmiR lentiviral vector - clinical trial and autologous CRISPR-Cas9-edited CD34+ hematopoietic stem and progenitor cells) - clinical trial)

Some of the beta-that variants are structural -- ability to detect reliably? For review.

We are only able to reliably screen for the HbS association.
Genomic newborn screening: BabyScreen+ v0.1862 HBA2 Zornitza Stark Classified gene: HBA2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1862 HBA2 Zornitza Stark Gene: hba2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1861 HBA2 Zornitza Stark edited their review of gene: HBA2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1861 HBA1 Zornitza Stark Classified gene: HBA1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1861 HBA1 Zornitza Stark Gene: hba1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1860 HBA1 Zornitza Stark changed review comment from: Well established gene-disease association.

Congenital onset.

Treatable: transfusions, bone marrow transplant.

However, there is widespread screening in pregnancy. Also note mutational spectrum includes SVs/CNVs: can we reliably diagnose? For review.; to: Well established gene-disease association.

Congenital onset.

Treatable: transfusions, bone marrow transplant.

However, there is widespread screening in pregnancy. Also note mutational spectrum includes SVs/CNVs: can we reliably diagnose?

Exclude for now due to technical concerns.
Genomic newborn screening: BabyScreen+ v0.1860 HBA1 Zornitza Stark edited their review of gene: HBA1: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1860 F8 Zornitza Stark Classified gene: F8 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1860 F8 Zornitza Stark Gene: f8 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1859 F8 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity.

Treatment: recombinant factor VIII. Gene therapy trial.

Non-genetic confirmatory testing: factor VIII levels.

Note: excluded from other screening tests due to concerns regarding ability to detect the intron 22 inversion (Inv22) mutation of F8 which causes about 45% of severe HA cases. For review.; to: Well established gene-disease association.

Variable severity.

Treatment: recombinant factor VIII. Gene therapy trial.

Non-genetic confirmatory testing: factor VIII levels.

Note: excluded from other screening tests due to concerns regarding ability to detect the intron 22 inversion (Inv22) mutation of F8 which causes about 45% of severe HA cases. Intron 1 inversion also common.

Excluded for now until we can confirm we can detect inversion.
Genomic newborn screening: BabyScreen+ v0.1859 F8 Zornitza Stark edited their review of gene: F8: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1859 TMEM43 Zornitza Stark Tag for review was removed from gene: TMEM43.
Genomic newborn screening: BabyScreen+ v0.1859 LAMP2 Zornitza Stark Tag for review was removed from gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.1859 LOX Zornitza Stark Tag for review was removed from gene: LOX.
Genomic newborn screening: BabyScreen+ v0.1859 TBX1 Zornitza Stark Classified gene: TBX1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1859 TBX1 Zornitza Stark Gene: tbx1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1858 TBX1 Zornitza Stark reviewed gene: TBX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1858 TBX1 Zornitza Stark Tag for review was removed from gene: TBX1.
Genomic newborn screening: BabyScreen+ v0.1858 PRKG1 Zornitza Stark Classified gene: PRKG1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1858 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1857 PRKG1 Zornitza Stark Tag for review was removed from gene: PRKG1.
Genomic newborn screening: BabyScreen+ v0.1857 PRKG1 Zornitza Stark edited their review of gene: PRKG1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1857 MYH11 Zornitza Stark Classified gene: MYH11 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1857 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1856 MYH11 Zornitza Stark Tag for review was removed from gene: MYH11.
Genomic newborn screening: BabyScreen+ v0.1856 MYH11 Zornitza Stark edited their review of gene: MYH11: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1856 LOX Zornitza Stark Classified gene: LOX as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1856 LOX Zornitza Stark Gene: lox has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1855 LOX Zornitza Stark edited their review of gene: LOX: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1855 KCNQ1 Zornitza Stark Tag for review was removed from gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.1855 KCNQ1 Zornitza Stark Classified gene: KCNQ1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1855 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1854 KCNQ1 Zornitza Stark edited their review of gene: KCNQ1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1854 DSG2 Zornitza Stark Tag for review was removed from gene: DSG2.
Genomic newborn screening: BabyScreen+ v0.1854 COL3A1 Zornitza Stark Tag for review was removed from gene: COL3A1.
Genomic newborn screening: BabyScreen+ v0.1854 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1853 JUP Zornitza Stark Classified gene: JUP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1853 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1852 JUP Zornitza Stark Tag for review was removed from gene: JUP.
Genomic newborn screening: BabyScreen+ v0.1852 JUP Zornitza Stark edited their review of gene: JUP: Added comment: Screen for bi-allelic disease as can be earlier onset, more severe.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1852 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1851 DSP Zornitza Stark Classified gene: DSP as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1851 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1850 DSP Zornitza Stark Tag for review was removed from gene: DSP.
Genomic newborn screening: BabyScreen+ v0.1850 DSP Zornitza Stark edited their review of gene: DSP: Added comment: Screen for bi-allelic disease as can be more severe, earlier onset.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1850 CALM3 Zornitza Stark Phenotypes for gene: CALM3 were changed from Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782 to Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782; Long QT syndrome 16, MIM#618782
Genomic newborn screening: BabyScreen+ v0.1849 CALM3 Zornitza Stark edited their review of gene: CALM3: Added comment: Variants in this gene also cause Long QT syndrome, and other Long QT syndrome genes have been included in the panel.; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782, Long QT syndrome 16, MIM#618782
Genomic newborn screening: BabyScreen+ v0.1849 CALM3 Zornitza Stark Tag for review was removed from gene: CALM3.
Genomic newborn screening: BabyScreen+ v0.1849 CALM2 Zornitza Stark Tag for review was removed from gene: CALM2.
Genomic newborn screening: BabyScreen+ v0.1849 LAMP2 Zornitza Stark Tag cardiac tag was added to gene: LAMP2.
Genomic newborn screening: BabyScreen+ v0.1849 TRPM4 Zornitza Stark Tag cardiac tag was added to gene: TRPM4.
Genomic newborn screening: BabyScreen+ v0.1849 TMEM43 Zornitza Stark changed review comment from: Rated as 'strong actionability' in paediatric patients by ClinGen together with other ARVC genes.

ARVC is a progressive heart disease characterized by degeneration of cardiac myocytes and their subsequent replacement by fat and fibrous tissue primarily in the right ventricle, though the left ventricle may also be affected. It is associated with an increased risk of ventricular arrhythmia (VA) and sudden cardiac death (SCD) in young individuals and athletes. The VA is usually in proportion to the degree of ventricular remodeling and dysfunction, and electrical instability. The mechanism of SCD is cardiac arrest due to sustained ventricular tachycardia (VT) or ventricular fibrillation (VF).

Age of onset is highly variable with a mean age of diagnosis of 31 years and a range of 4 to 64 years.

Antiarrhythmic drugs and beta-blockers are not recommended in healthy gene carriers. In patients with ARVC and ventricular arrhythmia (VA), a beta-blocker or other antiarrhythmic is recommended.

Recommendations for ICD placement in patients with ARVC differ across guidelines, both in terms of the indications for placement and whether recommendations are based on evidence or expert opinion. Recommendations based on non-randomized studies support ICD placement in patients with ARVC and an additional marker of increased risk of SCD (resuscitated SCA, sustained VT hemodynamically tolerated, and significant ventricular dysfunction with RVEF or LVEF ≤35%) and in patients with ARVC and syncope presumed to be due to VA if meaningful survival greater than 1 year is expected. The presence of a combination of other risk factors (e.g., male sex, frequent PVCs, syncope) may also be used to indicate implantation.

Serial screening for the emergence of cardiomyopathy is recommended for clinically unaffected individuals who carry a variant associated with ARVC, including:

• Medical history, with special attention to heart failure symptoms, arrhythmias, presyncope or syncope, and thromboembolism
• Physical examination with special attention to cardiac and neuromuscular systems and examination of the integumentary system if ARVC is suspected
• Electrocardiography
• Cardiovascular imaging.

Penetrance:
In a study of 264 probands with genetic variants associated with ARVC who presented alive, 73% had sustained VA, 13% had symptomatic HF, and 5% had cardiac death (2% SCD, 2% HF, and 1% HF with VA) during median 8-year follow-up. Among 385 family members of the probands who also carried an ARVC variant, 32% met clinical criteria for ARVC, 11% experienced sustained VA, and 2% died during follow-up (1% from SCD, 0.5% from HF, and 0.5% non-cardiac issues). In a second study of 220 probands with genetic variants associated with ARVC who presented alive, 54% presented with sustained VT. In 321 family members of the probands who also carried an ARVC variant, 14% were symptomatic at presentation but 8% experienced VA during a mean 4-year follow-up. For all 541 cases, 60% met clinical criteria for ARVC, 30% had sustained VA, 14% developed ventricular dysfunction, 5% experienced HF, 4% had a resuscitated SCD/VF, and 2% died over a mean follow-up of 6 years.; to: Rated as 'strong actionability' in paediatric patients by ClinGen together with other ARVC genes.

ARVC is a progressive heart disease characterized by degeneration of cardiac myocytes and their subsequent replacement by fat and fibrous tissue primarily in the right ventricle, though the left ventricle may also be affected. It is associated with an increased risk of ventricular arrhythmia (VA) and sudden cardiac death (SCD) in young individuals and athletes. The VA is usually in proportion to the degree of ventricular remodeling and dysfunction, and electrical instability. The mechanism of SCD is cardiac arrest due to sustained ventricular tachycardia (VT) or ventricular fibrillation (VF).

Age of onset is highly variable with a mean age of diagnosis of 31 years and a range of 4 to 64 years.

Antiarrhythmic drugs and beta-blockers are not recommended in healthy gene carriers. In patients with ARVC and ventricular arrhythmia (VA), a beta-blocker or other antiarrhythmic is recommended.

Recommendations for ICD placement in patients with ARVC differ across guidelines, both in terms of the indications for placement and whether recommendations are based on evidence or expert opinion. Recommendations based on non-randomized studies support ICD placement in patients with ARVC and an additional marker of increased risk of SCD (resuscitated SCA, sustained VT hemodynamically tolerated, and significant ventricular dysfunction with RVEF or LVEF ≤35%) and in patients with ARVC and syncope presumed to be due to VA if meaningful survival greater than 1 year is expected. The presence of a combination of other risk factors (e.g., male sex, frequent PVCs, syncope) may also be used to indicate implantation.

Serial screening for the emergence of cardiomyopathy is recommended for clinically unaffected individuals who carry a variant associated with ARVC, including:

• Medical history, with special attention to heart failure symptoms, arrhythmias, presyncope or syncope, and thromboembolism
• Physical examination with special attention to cardiac and neuromuscular systems and examination of the integumentary system if ARVC is suspected
• Electrocardiography
• Cardiovascular imaging.

Penetrance:
In a study of 264 probands with genetic variants associated with ARVC who presented alive, 73% had sustained VA, 13% had symptomatic HF, and 5% had cardiac death (2% SCD, 2% HF, and 1% HF with VA) during median 8-year follow-up. Among 385 family members of the probands who also carried an ARVC variant, 32% met clinical criteria for ARVC, 11% experienced sustained VA, and 2% died during follow-up (1% from SCD, 0.5% from HF, and 0.5% non-cardiac issues). In a second study of 220 probands with genetic variants associated with ARVC who presented alive, 54% presented with sustained VT. In 321 family members of the probands who also carried an ARVC variant, 14% were symptomatic at presentation but 8% experienced VA during a mean 4-year follow-up. For all 541 cases, 60% met clinical criteria for ARVC, 30% had sustained VA, 14% developed ventricular dysfunction, 5% experienced HF, 4% had a resuscitated SCD/VF, and 2% died over a mean follow-up of 6 years.

Note founder variant in Newfoundland.
Genomic newborn screening: BabyScreen+ v0.1849 TMEM43 Zornitza Stark edited their review of gene: TMEM43: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1849 SCN5A Zornitza Stark Classified gene: SCN5A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1849 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1848 SCN5A Zornitza Stark Tag for review was removed from gene: SCN5A.
Genomic newborn screening: BabyScreen+ v0.1848 SCN5A Zornitza Stark edited their review of gene: SCN5A: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1848 KCNH2 Zornitza Stark Classified gene: KCNH2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1848 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1847 KCNH2 Zornitza Stark Tag for review was removed from gene: KCNH2.
Genomic newborn screening: BabyScreen+ v0.1847 KCNH2 Zornitza Stark edited their review of gene: KCNH2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1847 DSC2 Zornitza Stark Tag for review was removed from gene: DSC2.
Genomic newborn screening: BabyScreen+ v0.1847 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1846 CASQ2 Zornitza Stark Classified gene: CASQ2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1846 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1845 CASQ2 Zornitza Stark Tag for review was removed from gene: CASQ2.
Genomic newborn screening: BabyScreen+ v0.1845 CASQ2 Zornitza Stark changed review comment from: Well established gene-disease association.

ClinGen: 'strong actionability' both for adult and paediatric patients. Treatment: beta blockers first line; ICD. There are also numerous known arrhythmia triggers which can be avoided.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

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

ClinGen: 'strong actionability' both for adult and paediatric patients. Treatment: beta blockers first line; ICD. There are also numerous known arrhythmia triggers which can be avoided.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.
Genomic newborn screening: BabyScreen+ v0.1845 CASQ2 Zornitza Stark edited their review of gene: CASQ2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1845 CASQ2 Zornitza Stark edited their review of gene: CASQ2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1845 ACTA2 Zornitza Stark Classified gene: ACTA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1845 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1844 ACTA2 Zornitza Stark Tag for review was removed from gene: ACTA2.
Genomic newborn screening: BabyScreen+ v0.1844 ACTA2 Zornitza Stark edited their review of gene: ACTA2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1844 TRDN Zornitza Stark Tag for review was removed from gene: TRDN.
Genomic newborn screening: BabyScreen+ v0.1844 TECRL Zornitza Stark Tag for review was removed from gene: TECRL.
Genomic newborn screening: BabyScreen+ v0.1844 RYR2 Zornitza Stark Tag for review was removed from gene: RYR2.
Genomic newborn screening: BabyScreen+ v0.1844 CALM1 Zornitza Stark Tag for review was removed from gene: CALM1.
Genomic newborn screening: BabyScreen+ v0.1844 CAD Zornitza Stark Marked gene: CAD as ready
Genomic newborn screening: BabyScreen+ v0.1844 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1844 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1844 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1843 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to gNBS. Sources: Expert list
treatable, metabolic tags were added to gene: CAD.
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989
Phenotypes for gene: CAD were set to Developmental and epileptic encephalopathy 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life.

Affected children can have a favourable response to treatment with uridine, PMID 28007989
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1842 CA12 Zornitza Stark Marked gene: CA12 as ready
Genomic newborn screening: BabyScreen+ v0.1842 CA12 Zornitza Stark Gene: ca12 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1842 CA12 Zornitza Stark Classified gene: CA12 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1842 CA12 Zornitza Stark Gene: ca12 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1841 CA12 Zornitza Stark gene: CA12 was added
gene: CA12 was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: CA12.
Mode of inheritance for gene: CA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA12 were set to Hyperchlorhidrosis, isolated MIM#143860
Review for gene: CA12 was set to GREEN
Added comment: Glu143Lys found in 4 Israeli Bedouin families. 2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD).

Excessive salt wasting in sweat can result in severe infantile hyponatraemic dehydration and hyperkalaemia.

Treatment: sodium chloride supplementation
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1840 AICDA Zornitza Stark Marked gene: AICDA as ready
Genomic newborn screening: BabyScreen+ v0.1840 AICDA Zornitza Stark Gene: aicda has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1840 AICDA Zornitza Stark Classified gene: AICDA as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1840 AICDA Zornitza Stark Gene: aicda has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1839 AICDA Zornitza Stark gene: AICDA was added
gene: AICDA was added to gNBS. Sources: Expert Review
treatable, immunological tags were added to gene: AICDA.
Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AICDA were set to Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Review for gene: AICDA was set to GREEN
Added comment: Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. Well established gene-disease association.

Severe, congenital disorder.

Treatment: immunoglobulin replacement therapy.

Confirmatory testing: antibody levels.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1838 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Genomic newborn screening: BabyScreen+ v0.1838 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1838 AGPAT2 Zornitza Stark Classified gene: AGPAT2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1838 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1837 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to gNBS. Sources: Expert list
for review, treatable, endocrine tags were added to gene: AGPAT2.
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to 29704234
Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Review for gene: AGPAT2 was set to AMBER
Added comment: Established gene-disease association.

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia.

Leptin replacement therapy (metreleptin) has been found to improve metabolic parameters in many patients with lipodystrophy. Metreleptin is approved in the United States as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy and has been submitted for approval elsewhere.

For review regarding availability and use of treatment locally.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1836 APC Zornitza Stark Classified gene: APC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1836 APC Zornitza Stark Gene: apc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1835 APC Zornitza Stark Tag cancer tag was added to gene: APC.
Genomic newborn screening: BabyScreen+ v0.1835 WT1 Zornitza Stark Classified gene: WT1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1835 WT1 Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1834 WT1 Zornitza Stark Tag for review was removed from gene: WT1.
Genomic newborn screening: BabyScreen+ v0.1834 WT1 Zornitza Stark changed review comment from: Rated as 'moderate actionability' in paediatric patients by ClinGen.

Individuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.

The goal of surveillance in individuals with a genetic predisposition to WT is to

detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.

No evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.

Penetrance is unclear. For review.; to: Rated as 'moderate actionability' in paediatric patients by ClinGen.

Individuals with germline WT1 pathogenic variants are more likely to have bilateral or multicentric tumors and to develop tumors at an early age. The median age of diagnosis is between 3 and 4 years and both kidneys are affected in ~5% of children. Significantly more females than males have the bilateral disease. Adult forms are very rare. In the majority of cases, the prognosis is favorable with a survival rate of over 90%.

The goal of surveillance in individuals with a genetic predisposition to WT is to

detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors. Surveillance is not a one-time event and should continue through the period of risk. WTs can double in size every week, leading to the recommendation that evaluation with abdominal ultrasound be performed every 3-4 months, with and no less frequently than 3 times a year, until age five years. Even at this frequency, occasional tumors may present clinically between scans and families should be made aware of this. However, there is no evidence to suggest that such tumors have a worse outcome.

No evidence was found on the effectiveness of surveillance in children with WT due to WT1 pathogenic variants. In addition, there is no clear evidence that surveillance results in a significant decrease in mortality or tumor stage generally. However, tumors detected by surveillance would be anticipated to be on average smaller than tumors that present clinically. There have been three small retrospective evaluations of WT surveillance published, only one of which reported a significant difference in stage distribution between screened and unscreened individuals. This report was a case series of children with Beckwith-Wiedemann syndrome and idiopathic hemihypertropy, where 0/12 screened children with WT had late-stage disease and 25/59 (42%) of unscreened children had late-stage WT (p<0.003). In addition, in Germany, where abdominal ultrasound in children is common and 10% of WT are diagnosed prior to symptoms, there are some data to suggest that asymptomatic tumors are of lower stage than those present due to clinical symptoms.
Genomic newborn screening: BabyScreen+ v0.1834 GLA Zornitza Stark Tag for review was removed from gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1834 GLA Zornitza Stark changed review comment from: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype.

Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.

A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.

Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.

A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.

There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype.

Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.

A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.

Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.

A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.

There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started. Note ERT is licensed in Australia from age 7 years.

However, carbamazepine relieves neuropathic pain, which has onset in early childhood. Overall, include.
Genomic newborn screening: BabyScreen+ v0.1834 GLA Zornitza Stark edited their review of gene: GLA: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1834 SMAD2 Zornitza Stark Marked gene: SMAD2 as ready
Genomic newborn screening: BabyScreen+ v0.1834 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1834 SMAD2 Zornitza Stark Classified gene: SMAD2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1834 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1833 SMAD2 Zornitza Stark Tag cardiac tag was added to gene: SMAD2.
Tag treatable tag was added to gene: SMAD2.
Genomic newborn screening: BabyScreen+ v0.1833 SMAD2 Zornitza Stark gene: SMAD2 was added
gene: SMAD2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, MIM# 619656
Review for gene: SMAD2 was set to GREEN
Added comment: 9 individuals from 5 unrelated families reported with LDS phenotype. Gene-disease association rated 'moderate' by ClinGen but this gene is included in our diagnostic testing.

LDS included in gNBS panel as in general medical actionability for the LDS group of disorders is considered established.

Can manifest in early childhood.

Treatment: different interventions, including beta-blockers, surgical and monitoring

Non-genetic confirmatory test: characteristic clinical findings
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1832 SMAD3 Zornitza Stark Tag for review was removed from gene: SMAD3.
Tag treatable tag was added to gene: SMAD3.
Genomic newborn screening: BabyScreen+ v0.1832 TGFB3 Zornitza Stark Tag for review was removed from gene: TGFB3.
Genomic newborn screening: BabyScreen+ v0.1832 TGFB2 Zornitza Stark Tag for review was removed from gene: TGFB2.
Genomic newborn screening: BabyScreen+ v0.1832 PMS2 Zornitza Stark Classified gene: PMS2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1832 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1831 PMS2 Zornitza Stark Tag for review was removed from gene: PMS2.
Genomic newborn screening: BabyScreen+ v0.1831 PMS2 Zornitza Stark edited their review of gene: PMS2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1831 MSH6 Zornitza Stark Classified gene: MSH6 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1831 MSH6 Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1830 MSH6 Zornitza Stark Tag for review was removed from gene: MSH6.
Genomic newborn screening: BabyScreen+ v0.1830 MSH6 Zornitza Stark edited their review of gene: MSH6: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1830 MSH2 Zornitza Stark Classified gene: MSH2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1830 MSH2 Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1829 MSH2 Zornitza Stark Tag for review was removed from gene: MSH2.
Genomic newborn screening: BabyScreen+ v0.1829 MSH2 Zornitza Stark edited their review of gene: MSH2: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1829 MLH1 Zornitza Stark Classified gene: MLH1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1829 MLH1 Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1828 MLH1 Zornitza Stark edited their review of gene: MLH1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1828 SLC13A5 Zornitza Stark Classified gene: SLC13A5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1828 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1827 PTCH1 Zornitza Stark Classified gene: PTCH1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1827 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1826 PTCH1 Zornitza Stark Tag for review was removed from gene: PTCH1.
Genomic newborn screening: BabyScreen+ v0.1826 PMM2 Zornitza Stark Classified gene: PMM2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1826 PMM2 Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1825 PMM2 Zornitza Stark changed review comment from: Well established gene-disease association.

Two clinical presentations - solely neurologic form and a neurologic-multivisceral form
Mortality approximately 20% in first 2 years

Treatment: epalrestat

PMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations.

For review: uncertain if in use for CDG; to: Well established gene-disease association.

Two clinical presentations - solely neurologic form and a neurologic-multivisceral form
Mortality approximately 20% in first 2 years

Treatment: epalrestat

PMID 31636082: Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations.

Treatment not well established in patients.
Genomic newborn screening: BabyScreen+ v0.1825 PMM2 Zornitza Stark edited their review of gene: PMM2: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1825 PMM2 Zornitza Stark Tag for review was removed from gene: PMM2.
Tag metabolic was removed from gene: PMM2.
Genomic newborn screening: BabyScreen+ v0.1825 PIK3CA Zornitza Stark Classified gene: PIK3CA as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1825 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1824 PIK3CA Zornitza Stark Tag for review was removed from gene: PIK3CA.
Genomic newborn screening: BabyScreen+ v0.1824 PIK3CA Zornitza Stark edited their review of gene: PIK3CA: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1824 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.1824 HPRT1 Zornitza Stark Classified gene: HPRT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1824 HPRT1 Zornitza Stark Gene: hprt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1823 HPRT1 Zornitza Stark changed review comment from: Uncertain if these are essentially symptomatic treatments.; to: Symptomatic treatments.
Genomic newborn screening: BabyScreen+ v0.1823 HPRT1 Zornitza Stark edited their review of gene: HPRT1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1823 GLDC Zornitza Stark Tag for review was removed from gene: GLDC.
Tag treatable tag was added to gene: GLDC.
Tag metabolic tag was added to gene: GLDC.
Genomic newborn screening: BabyScreen+ v0.1823 GLDC Zornitza Stark edited their review of gene: GLDC: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1823 FBN1 Zornitza Stark Classified gene: FBN1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1823 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1822 FBN1 Zornitza Stark Tag for review was removed from gene: FBN1.
Tag cardiac tag was added to gene: FBN1.
Tag treatable tag was added to gene: FBN1.
Genomic newborn screening: BabyScreen+ v0.1822 FBN1 Zornitza Stark edited their review of gene: FBN1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1822 DICER1 Zornitza Stark Classified gene: DICER1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1822 DICER1 Zornitza Stark Gene: dicer1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1821 DICER1 Zornitza Stark Tag for review was removed from gene: DICER1.
Genomic newborn screening: BabyScreen+ v0.1821 DICER1 Zornitza Stark edited their review of gene: DICER1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1821 TP53 Zornitza Stark Tag for review was removed from gene: TP53.
Genomic newborn screening: BabyScreen+ v0.1821 SLC5A6 Zornitza Stark Tag for review was removed from gene: SLC5A6.
Tag treatable tag was added to gene: SLC5A6.
Tag metabolic tag was added to gene: SLC5A6.
Genomic newborn screening: BabyScreen+ v0.1821 RET Zornitza Stark Tag for review was removed from gene: RET.
Genomic newborn screening: BabyScreen+ v0.1821 RET Zornitza Stark changed review comment from: Established gene-disease associations.

Assessed as 'strong actionability' in paediatric patients by ClinGen.

Onset of MEN2A is typically prior to age 35, usually between ages 5 and 25. MTC is generally the first manifestation in MEN2A with probands presenting with a neck mass or neck pain. Metastatic spread is common. MTC is the most common cause of death in patients with MEN2A.

PHEOs usually present after MTC or concomitantly but are the first manifestation in 13-27% of individuals; they occur in about 50% of individuals. PHEOs are diagnosed at an earlier age, have subtler symptoms, and are more likely to be bilateral than sporadic tumors, with malignant transformation occurring in about 4% of cases. Even without malignant progression, PHEOs can be lethal from intractable hypertension or anesthesia-induced hypertensive crises. Depending on the risk category of the RET pathogenic variant, PHEOs have been observed as early as 5 years of age.

For MEN2A children with a “high-risk” pathogenic variant, patients should undergo annual ultrasound and screening for increased calcitonin levels starting at 3 years of age and proceed to thyroidectomy when elevated levels are detected or at 5 years of age. For patients with a “moderate-risk” pathogenic variant, considering the clinical variability of disease expression in family members in this category, annual physical examination, cervical US, and measurement of serum calcitonin levels, should begin at 5 years of age.

Biochemical surveillance for PHPT should begin at 11 years and 16 years of age for patients with high- and moderate-risk variants, respectively; this screening is recommended annually for “high-risk” patients and at least every 2-3 years in “moderate-risk” patients.

Biochemical screening for PHEO should begin at age 11 for patients with high-risk variants and age 16 for patients with moderate-risk variants.

For review: actionable in first 5 years of life?; to: Established gene-disease associations.

Assessed as 'strong actionability' in paediatric patients by ClinGen.

Onset of MEN2A is typically prior to age 35, usually between ages 5 and 25. MTC is generally the first manifestation in MEN2A with probands presenting with a neck mass or neck pain. Metastatic spread is common. MTC is the most common cause of death in patients with MEN2A.

PHEOs usually present after MTC or concomitantly but are the first manifestation in 13-27% of individuals; they occur in about 50% of individuals. PHEOs are diagnosed at an earlier age, have subtler symptoms, and are more likely to be bilateral than sporadic tumors, with malignant transformation occurring in about 4% of cases. Even without malignant progression, PHEOs can be lethal from intractable hypertension or anesthesia-induced hypertensive crises. Depending on the risk category of the RET pathogenic variant, PHEOs have been observed as early as 5 years of age.

For MEN2A children with a “high-risk” pathogenic variant, patients should undergo annual ultrasound and screening for increased calcitonin levels starting at 3 years of age and proceed to thyroidectomy when elevated levels are detected or at 5 years of age. For patients with a “moderate-risk” pathogenic variant, considering the clinical variability of disease expression in family members in this category, annual physical examination, cervical US, and measurement of serum calcitonin levels, should begin at 5 years of age.

Biochemical surveillance for PHPT should begin at 11 years and 16 years of age for patients with high- and moderate-risk variants, respectively; this screening is recommended annually for “high-risk” patients and at least every 2-3 years in “moderate-risk” patients.

Biochemical screening for PHEO should begin at age 11 for patients with high-risk variants and age 16 for patients with moderate-risk variants.

For review: some actionability in first 5 years, variants can be stratified in terms of risk.
Genomic newborn screening: BabyScreen+ v0.1821 RB1 Zornitza Stark Tag for review was removed from gene: RB1.
Genomic newborn screening: BabyScreen+ v0.1821 PRKAR1A Zornitza Stark Tag for review was removed from gene: PRKAR1A.
Genomic newborn screening: BabyScreen+ v0.1821 NF1 Zornitza Stark Classified gene: NF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1821 NF1 Zornitza Stark Gene: nf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1820 NF1 Zornitza Stark changed review comment from: For review: does this meet the definition of 'treatable'?; to: Mainly surveillance.
Genomic newborn screening: BabyScreen+ v0.1820 NF1 Zornitza Stark edited their review of gene: NF1: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1820 MCEE Zornitza Stark Tag for review was removed from gene: MCEE.
Genomic newborn screening: BabyScreen+ v0.1820 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Genomic newborn screening: BabyScreen+ v0.1820 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1820 ECHS1 Zornitza Stark Classified gene: ECHS1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1820 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1819 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to gNBS. Sources: Expert list
treatable, metabolic tags were added to gene: ECHS1.
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 32642440
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Review for gene: ECHS1 was set to GREEN
Added comment: Well established gene-disease association.

Usually presents in infancy.

Treatable-ID – level 4 evidence: valine restriction improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations (PMID: 32642440)
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1818 DHFR Zornitza Stark Marked gene: DHFR as ready
Genomic newborn screening: BabyScreen+ v0.1818 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1818 DHFR Zornitza Stark Classified gene: DHFR as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1818 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1817 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: DHFR.
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHFR were set to Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to GREEN
Added comment: Established gene-disease association.

Congenital onset.

Treatment: folinic acid.

Non-genetic confirmatory testing: complete blood count with MCV and CSF 5-methyltetrahydrofolate level.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1816 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Genomic newborn screening: BabyScreen+ v0.1816 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1816 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1816 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1815 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: DNAJC12.
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Established gene-disease association.

Manifests as mild hyperphenylalaninaemia that would be detected on NBS – untreated results in axial hypotonia, dystonia, nystagmus, global developmental delay,
and intellectual disability.

From Treatable-ID, level 4 evidence that BH4, L-dopa + carbidopa +/-, 5-
hydroxytryptophan improves psychomotor/cognitive development/IQ; prevents, halts, or slows clinical deterioration and improves neurological manifestations.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1814 GALM Zornitza Stark Marked gene: GALM as ready
Genomic newborn screening: BabyScreen+ v0.1814 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1814 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1814 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1813 GALM Zornitza Stark gene: GALM was added
gene: GALM was added to gNBS. Sources: Expert Review
treatable, metabolic tags were added to gene: GALM.
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALM were set to Galactosemia IV MIM#618881
Review for gene: GALM was set to GREEN
Added comment: Established gene-disease association.

Congenital onset.

Treatment: galactose/lactose-restricted diet.

Non-genetic confirmatory testing: galactose level.
Sources: Expert Review
Genomic newborn screening: BabyScreen+ v0.1812 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Genomic newborn screening: BabyScreen+ v0.1812 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1812 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Dystonia, dopa-responsive to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Genomic newborn screening: BabyScreen+ v0.1811 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Genomic newborn screening: BabyScreen+ v0.1810 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1809 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1809 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1808 GCH1 Zornitza Stark Tag treatable tag was added to gene: GCH1.
Tag metabolic tag was added to gene: GCH1.
Genomic newborn screening: BabyScreen+ v0.1808 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1807 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Genomic newborn screening: BabyScreen+ v0.1807 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1807 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from Lynch syndrome to Mismatch repair cancer syndrome 4, MIM# 619101
Genomic newborn screening: BabyScreen+ v0.1806 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1805 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1805 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1804 PMS2 Zornitza Stark Tag for review tag was added to gene: PMS2.
Tag cancer tag was added to gene: PMS2.
Tag treatable tag was added to gene: PMS2.
Genomic newborn screening: BabyScreen+ v0.1804 PMS2 Zornitza Stark reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 4, MIM# 619101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1804 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Genomic newborn screening: BabyScreen+ v0.1804 MSH6 Zornitza Stark Gene: msh6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1804 MSH6 Zornitza Stark Phenotypes for gene: MSH6 were changed from Lynch syndrome to Mismatch repair cancer syndrome 3, MIM# 619097
Genomic newborn screening: BabyScreen+ v0.1803 MSH6 Zornitza Stark Mode of inheritance for gene: MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1802 MSH6 Zornitza Stark Classified gene: MSH6 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1802 MSH6 Zornitza Stark Gene: msh6 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1801 MSH6 Zornitza Stark Tag for review tag was added to gene: MSH6.
Tag cancer tag was added to gene: MSH6.
Tag treatable tag was added to gene: MSH6.
Genomic newborn screening: BabyScreen+ v0.1801 MSH6 Zornitza Stark reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 3, MIM# 619097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1801 MLH1 Zornitza Stark changed review comment from: Note mono-allelic variants are associated with adult-onset cancer risk.

MMRCS rated as 'strong actionability' in paediatric patients by ClinGen.

The hallmark of MMRCS is early onset cancer, most often in childhood or young adulthood. The median age of onset of the first tumor is 7.5 years, with a wide range observed (0.4-39 years). A large portion (up to 40%) of patients develop metachronous second malignancies. The median survival after diagnosis of the primary tumor is less than 30 months. Prognosis depends on the possibility of complete resection, making early detection paramount. It is unclear what tumor spectrum will emerge among adults with MMRCS. Brain tumors are frequent and often diagnosed in the first decade of life. The rate of progression appears to be rapid in the brain tumors. The median age at diagnosis of brain tumors is 9 years (range, 2-40 years). Brain tumors are by far the most common cause of death. Colonic adenomatous oligopolyposis typically is diagnosed between 5 and 10 years of age. The progression of adenomas to malignancy in MMRCS is the most rapid of any inherited colorectal cancer syndrome. Among MMRCS patients presenting with colorectal cancer (CRC), the median age at diagnosis was 16 years (range, 8-48 years) with more than half of patients classified as pediatric-onset CRC. The age of onset of small-bowel adenomas is later; they typically develop in the second decade of life. The median age at diagnosis of small-bowel cancer was 28 years, with a range of 11-42 years. The lifetime risk of gastrointestinal cancer among MMRCS patients is the highest reported of all gastrointestinal cancer predisposition syndromes as a function of age. The median age at diagnosis of hematologic malignancy is 6.6 years. Endometrial cancer has been diagnosed between 19 and 44 years. The age at diagnosis of urinary tract tumors has ranged from 10 to 22 years.

The management of MMRCS is based on the current estimates of neoplasia risk and the early age of onset for the cancers, which have led to tentative guidelines for the management of these patients. The age at which to begin surveillance varies by guideline and is represented below as age ranges. In patients with MMRCS, the following surveillance is suggested:

•Screening for CRC by colonoscopy is recommended annually beginning at age 6 to 8 years. Once polyps are identified, colonoscopy every 6 months is recommended.
•Annual surveillance for small-bowel cancer by upper endoscopy and video capsule endoscopy is suggested beginning at 8 to 10 years of age. Monitoring of hemoglobin levels every 6 months also is suggested, beginning at 8 years of age.
•Surveillance for brain tumors by brain MRI every 6 to 12 months is suggested starting at the time of diagnosis even in the first year of life to age 2 years.
•Currently, no proven surveillance modalities for leukemia or lymphoma have been identified. Complete blood count to screen for leukemia is suggested every 6 months beginning at 1 year of age. Clinical examinations and abdominal ultrasounds to screen for lymphoma every 6 months may be considered by the treating physician.
•For individuals with a uterus, surveillance for endometrial cancer is suggested by transvaginal ultrasound, pelvic examination, and endometrial sampling annually starting at age 20 years.
•Surveillance for cancer of the urinary tract is suggested, with annual urinalysis starting at age 10 to 20 years.
•To screen for other types of tumors, whole-body MRI could be considered once a year starting at 6 years of age or when anesthesia is not needed. This method should not replace the need for ultrasound and brain MRI.

Estimated penetrance in MMRCS:

•50% develop small-bowel adenomas
•>90% develop colorectal adenomas
•59 to 70% develop colorectal cancer
•58 to 70% develop high-grade brain tumours
•20-40% develop lymphoma
•10-40% develop leukemia
•10 to 18% develop small-bowel cancer
•<10% develop endometrial cancer
•<10% develop urinary tract cancer

•<10% develop cancer of other sites; to: Note mono-allelic variants are associated with adult-onset cancer risk.

MMRCS rated as 'strong actionability' in paediatric patients by ClinGen.

The hallmark of MMRCS is early onset cancer, most often in childhood or young adulthood. The median age of onset of the first tumor is 7.5 years, with a wide range observed (0.4-39 years). A large portion (up to 40%) of patients develop metachronous second malignancies. The median survival after diagnosis of the primary tumor is less than 30 months. Prognosis depends on the possibility of complete resection, making early detection paramount. It is unclear what tumor spectrum will emerge among adults with MMRCS. Brain tumors are frequent and often diagnosed in the first decade of life. The rate of progression appears to be rapid in the brain tumors. The median age at diagnosis of brain tumors is 9 years (range, 2-40 years). Brain tumors are by far the most common cause of death. Colonic adenomatous oligopolyposis typically is diagnosed between 5 and 10 years of age. The progression of adenomas to malignancy in MMRCS is the most rapid of any inherited colorectal cancer syndrome. Among MMRCS patients presenting with colorectal cancer (CRC), the median age at diagnosis was 16 years (range, 8-48 years) with more than half of patients classified as pediatric-onset CRC. The age of onset of small-bowel adenomas is later; they typically develop in the second decade of life. The median age at diagnosis of small-bowel cancer was 28 years, with a range of 11-42 years. The lifetime risk of gastrointestinal cancer among MMRCS patients is the highest reported of all gastrointestinal cancer predisposition syndromes as a function of age. The median age at diagnosis of hematologic malignancy is 6.6 years. Endometrial cancer has been diagnosed between 19 and 44 years. The age at diagnosis of urinary tract tumors has ranged from 10 to 22 years.

The management of MMRCS is based on the current estimates of neoplasia risk and the early age of onset for the cancers, which have led to tentative guidelines for the management of these patients. The age at which to begin surveillance varies by guideline and is represented below as age ranges. In patients with MMRCS, the following surveillance is suggested:

•Screening for CRC by colonoscopy is recommended annually beginning at age 6 to 8 years. Once polyps are identified, colonoscopy every 6 months is recommended.
•Annual surveillance for small-bowel cancer by upper endoscopy and video capsule endoscopy is suggested beginning at 8 to 10 years of age. Monitoring of hemoglobin levels every 6 months also is suggested, beginning at 8 years of age.
•Surveillance for brain tumors by brain MRI every 6 to 12 months is suggested starting at the time of diagnosis even in the first year of life to age 2 years.
•Currently, no proven surveillance modalities for leukemia or lymphoma have been identified. Complete blood count to screen for leukemia is suggested every 6 months beginning at 1 year of age. Clinical examinations and abdominal ultrasounds to screen for lymphoma every 6 months may be considered by the treating physician.
•For individuals with a uterus, surveillance for endometrial cancer is suggested by transvaginal ultrasound, pelvic examination, and endometrial sampling annually starting at age 20 years.
•Surveillance for cancer of the urinary tract is suggested, with annual urinalysis starting at age 10 to 20 years.
•To screen for other types of tumors, whole-body MRI could be considered once a year starting at 6 years of age or when anesthesia is not needed. This method should not replace the need for ultrasound and brain MRI.

Estimated penetrance in MMRCS:

•50% develop small-bowel adenomas
•>90% develop colorectal adenomas
•59 to 70% develop colorectal cancer
•58 to 70% develop high-grade brain tumours
•20-40% develop lymphoma
•10-40% develop leukemia
•10 to 18% develop small-bowel cancer
•<10% develop endometrial cancer
•<10% develop urinary tract cancer
•<10% develop cancer of other sites
Genomic newborn screening: BabyScreen+ v0.1801 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Genomic newborn screening: BabyScreen+ v0.1801 MLH1 Zornitza Stark Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1801 MLH1 Zornitza Stark Phenotypes for gene: MLH1 were changed from Lynch syndrome to Mismatch repair cancer syndrome 1, MIM# 276300
Genomic newborn screening: BabyScreen+ v0.1800 MLH1 Zornitza Stark Mode of inheritance for gene: MLH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1799 TMPRSS3 Seb Lunke Marked gene: TMPRSS3 as ready
Genomic newborn screening: BabyScreen+ v0.1799 TMPRSS3 Seb Lunke Gene: tmprss3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1799 TMPRSS3 Seb Lunke Phenotypes for gene: TMPRSS3 were changed from Deafness, autosomal recessive to deafness, autosomal recessive MIM#601072
Genomic newborn screening: BabyScreen+ v0.1798 TMPRSS3 Seb Lunke Publications for gene: TMPRSS3 were set to
Genomic newborn screening: BabyScreen+ v0.1797 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Genomic newborn screening: BabyScreen+ v0.1797 MSH2 Zornitza Stark Gene: msh2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1797 MSH2 Zornitza Stark Phenotypes for gene: MSH2 were changed from Lynch syndrome to Mismatch repair cancer syndrome 2, MIM# 619096
Genomic newborn screening: BabyScreen+ v0.1796 MLH1 Zornitza Stark Classified gene: MLH1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1796 MLH1 Zornitza Stark Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1795 MSH2 Zornitza Stark Mode of inheritance for gene: MSH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1794 MSH2 Zornitza Stark Classified gene: MSH2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1794 MSH2 Zornitza Stark Gene: msh2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1793 MSH2 Zornitza Stark Tag for review tag was added to gene: MSH2.
Tag cancer tag was added to gene: MSH2.
Tag treatable tag was added to gene: MSH2.
Genomic newborn screening: BabyScreen+ v0.1793 LYST Seb Lunke Marked gene: LYST as ready
Genomic newborn screening: BabyScreen+ v0.1793 LYST Seb Lunke Gene: lyst has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1793 MSH2 Zornitza Stark reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 2, MIM# 619096; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1793 COL9A2 Seb Lunke Marked gene: COL9A2 as ready
Genomic newborn screening: BabyScreen+ v0.1793 COL9A2 Seb Lunke Gene: col9a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1793 MLH1 Zornitza Stark Tag for review tag was added to gene: MLH1.
Tag cancer tag was added to gene: MLH1.
Tag treatable tag was added to gene: MLH1.
Genomic newborn screening: BabyScreen+ v0.1793 MLH1 Zornitza Stark reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome 1, MIM# 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1793 TPRN Zornitza Stark Marked gene: TPRN as ready
Genomic newborn screening: BabyScreen+ v0.1793 TPRN Zornitza Stark Gene: tprn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1793 TPRN Zornitza Stark Phenotypes for gene: TPRN were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 79, MIM# 613307
Genomic newborn screening: BabyScreen+ v0.1792 TPRN Zornitza Stark Classified gene: TPRN as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1792 TPRN Zornitza Stark Gene: tprn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1791 TPRN Zornitza Stark Tag deafness tag was added to gene: TPRN.
Genomic newborn screening: BabyScreen+ v0.1791 TPRN Zornitza Stark reviewed gene: TPRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 79, MIM# 613307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1791 STRC Zornitza Stark Classified gene: STRC as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1791 STRC Zornitza Stark Gene: strc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1790 STRC Zornitza Stark Tag for review was removed from gene: STRC.
Tag deafness tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v0.1790 STRC Zornitza Stark reviewed gene: STRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1790 S1PR2 Zornitza Stark Marked gene: S1PR2 as ready
Genomic newborn screening: BabyScreen+ v0.1790 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1790 S1PR2 Zornitza Stark Classified gene: S1PR2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1790 S1PR2 Zornitza Stark Gene: s1pr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1789 S1PR2 Zornitza Stark gene: S1PR2 was added
gene: S1PR2 was added to gNBS. Sources: ClinGen
deafness tags were added to gene: S1PR2.
Mode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM# 610419
Review for gene: S1PR2 was set to GREEN
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1788 PTPRQ Zornitza Stark Marked gene: PTPRQ as ready
Genomic newborn screening: BabyScreen+ v0.1788 PTPRQ Zornitza Stark Gene: ptprq has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1788 PTPRQ Zornitza Stark Classified gene: PTPRQ as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1788 PTPRQ Zornitza Stark Gene: ptprq has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1787 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to gNBS. Sources: ClinGen
deafness tags were added to gene: PTPRQ.
Mode of inheritance for gene: PTPRQ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTPRQ were set to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663
Review for gene: PTPRQ was set to GREEN
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset of deafness is generally pre-lingual, therefore include.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1786 POU3F4 Zornitza Stark Classified gene: POU3F4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1786 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1785 POU3F4 Zornitza Stark Tag deafness tag was added to gene: POU3F4.
Genomic newborn screening: BabyScreen+ v0.1785 POU3F4 Zornitza Stark Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1785 POU3F4 Zornitza Stark edited their review of gene: POU3F4: Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen, onset is generally pre-lingual, therefore include.; Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1785 OTOG Zornitza Stark Marked gene: OTOG as ready
Genomic newborn screening: BabyScreen+ v0.1785 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1785 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 18B - MIM#614945
Genomic newborn screening: BabyScreen+ v0.1784 OTOG Zornitza Stark Classified gene: OTOG as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1784 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1783 OTOG Zornitza Stark Tag deafness tag was added to gene: OTOG.
Genomic newborn screening: BabyScreen+ v0.1783 OTOG Zornitza Stark reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1783 MYO3A Zornitza Stark Classified gene: MYO3A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1783 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1782 MYO3A Zornitza Stark Tag deafness tag was added to gene: MYO3A.
Genomic newborn screening: BabyScreen+ v0.1782 MYO3A Zornitza Stark edited their review of gene: MYO3A: Added comment: Assessed by ClinGen as 'strong actionability' in paediatric patients.

Included as a cause of pre-lingual deafness, therefore include in this panel, noting some reports of later onset.; Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1782 PRKG1 Zornitza Stark Marked gene: PRKG1 as ready
Genomic newborn screening: BabyScreen+ v0.1782 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1782 PRKG1 Zornitza Stark Classified gene: PRKG1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1782 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1781 PRKG1 Zornitza Stark gene: PRKG1 was added
gene: PRKG1 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: PRKG1.
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM#615436
Penetrance for gene: PRKG1 were set to Incomplete
Review for gene: PRKG1 was set to AMBER
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 31 individuals with PRKG1 pathogenic variants indicated that 63% presented with an aortic dissection and 37% had aortic root enlargement. The cumulative risk of an aortic dissection or repair of an aortic aneurysm by age 55 has been estimated as 86% (95% CI: 70-95%).
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1780 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Genomic newborn screening: BabyScreen+ v0.1780 MYH11 Zornitza Stark Gene: myh11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1780 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4 to Aortic aneurysm, familial thoracic 4, MIM#160745
Genomic newborn screening: BabyScreen+ v0.1779 MYH11 Zornitza Stark Tag for review tag was added to gene: MYH11.
Tag cardiac tag was added to gene: MYH11.
Tag treatable tag was added to gene: MYH11.
Genomic newborn screening: BabyScreen+ v0.1779 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM#160745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1779 LOX Zornitza Stark Marked gene: LOX as ready
Genomic newborn screening: BabyScreen+ v0.1779 LOX Zornitza Stark Gene: lox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1779 LOX Zornitza Stark Classified gene: LOX as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1779 LOX Zornitza Stark Gene: lox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1778 LOX Zornitza Stark gene: LOX was added
gene: LOX was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: LOX.
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM#617168
Penetrance for gene: LOX were set to Incomplete
Review for gene: LOX was set to AMBER
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

FTAAD is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection, or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta).

Variable age of clinical presentation.

Prophylactic surgical repair of the aorta is recommended at 4.5-5.0 cm for patients with pathogenic variants in MYH11, SMAD3, and ACTA2 and at 4.0-4.5 cm for patients with pathogenic variants in TGFBR1 or TGFBR2.

Beta adrenergic-blocking agents are recommended to reduce aortic dilation. Losartan was added as an alternative to beta adrenergic-blocking agents in FTAAD after studies showed its efficacy in children and young adults with MFS who were randomly assigned to losartan or atenolol.

Penetrance: A study of 15 individuals with LOX pathogenic variants indicated that 73% had aortic aneurysms and 1 individual (7%) had an aortic dissection.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1777 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Genomic newborn screening: BabyScreen+ v0.1777 ACTA2 Zornitza Stark Gene: acta2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1777 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from Aortic aneurysm, familial thoracic to Aortic aneurysm, familial thoracic 6, MIM# 611788
Genomic newborn screening: BabyScreen+ v0.1776 ACTA2 Zornitza Stark Tag for review tag was added to gene: ACTA2.
Tag cardiac tag was added to gene: ACTA2.
Tag treatable tag was added to gene: ACTA2.
Genomic newborn screening: BabyScreen+ v0.1776 ACTA2 Zornitza Stark reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1776 STK11 Zornitza Stark Classified gene: STK11 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1776 STK11 Zornitza Stark Gene: stk11 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1775 STK11 Zornitza Stark Tag cancer tag was added to gene: STK11.
Tag treatable tag was added to gene: STK11.
Genomic newborn screening: BabyScreen+ v0.1775 STK11 Zornitza Stark reviewed gene: STK11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1775 MCEE Zornitza Stark Marked gene: MCEE as ready
Genomic newborn screening: BabyScreen+ v0.1775 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1775 MCEE Zornitza Stark Phenotypes for gene: MCEE were changed from Methylmalonyl-CoA epimerase deficiency to Methylmalonyl-CoA epimerase deficiency MIM#251120
Genomic newborn screening: BabyScreen+ v0.1774 MCEE Zornitza Stark Classified gene: MCEE as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1774 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1773 MCEE Zornitza Stark Tag for review tag was added to gene: MCEE.
Tag treatable tag was added to gene: MCEE.
Tag metabolic tag was added to gene: MCEE.
Genomic newborn screening: BabyScreen+ v0.1773 MCEE Zornitza Stark reviewed gene: MCEE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonyl-CoA epimerase deficiency MIM#251120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1773 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Genomic newborn screening: BabyScreen+ v0.1773 RUNX1 Zornitza Stark Gene: runx1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1773 RUNX1 Zornitza Stark Classified gene: RUNX1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1773 RUNX1 Zornitza Stark Gene: runx1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1772 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to gNBS. Sources: ClinGen
for review, treatable, haematological tags were added to gene: RUNX1.
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Review for gene: RUNX1 was set to AMBER
Added comment: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

HTHCPS is characterized by mild to moderate thrombocytopenia with normal platelet size, abnormal platelet functioning (defective release of delta granules and/or aggregation defects), and an increased risk of developing a haematologic malignancy.

Age of onset of bleeding can be highly variable, with some individuals presenting in early infancy and others not recognizing their symptoms until much later in life. Severe thrombocytopenia or profound platelet dysfunction can result in recognition during the perinatal or infancy period. Hematologic malignancies can occur in childhood or adulthood; the range of age of onset is wide with a median age of 33 years.

Use of clotting promotors (e.g., desmopressin, epsilon aminocaproic acid, tranexamic acid) can be used for surgeries, injuries, or dental treatments. Platelet transfusions may be used for severe bleeding or procedures with a high bleeding risk.

Though there is no specific treatment for HTHCPS, there are recommendations regarding the indications and timing of hematopoietic stem cell transplantation (HSCT) that vary. HSCT in pre-malignancy patients, particularly in the absence of any clonal progression, is debatable due to transplantation-associated risks and incomplete penetrance. Some suggested indications for HSCT include severe or symptomatic cytopenias, severe marrow dysplasia (particularly in the context of falling blood counts), complex or high-risk (e.g., monosomy 7) cytogenetic abnormalities (particularly if the clones are large or increasing in size) and increasing blasts >5%.

Consider use of a medical alert bracelet for thrombocytopenia, platelet dysfunction, or hematologic malignancy as indicated.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1771 DICER1 Zornitza Stark Marked gene: DICER1 as ready
Genomic newborn screening: BabyScreen+ v0.1771 DICER1 Zornitza Stark Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1771 DICER1 Zornitza Stark Classified gene: DICER1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1771 DICER1 Zornitza Stark Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1770 DICER1 Zornitza Stark Tag for review tag was added to gene: DICER1.
Tag cancer tag was added to gene: DICER1.
Tag treatable tag was added to gene: DICER1.
Genomic newborn screening: BabyScreen+ v0.1770 DICER1 Zornitza Stark gene: DICER1 was added
gene: DICER1 was added to gNBS. Sources: ClinGen
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DICER1 were set to DICER1 syndrome, MONDO:0017288
Penetrance for gene: DICER1 were set to Incomplete
Review for gene: DICER1 was set to AMBER
Added comment: Rated as 'moderate actionability' in paediatric patients by ClinGen.

A multiple registry study examining neoplasm incidence in a cohort containing 102 non-probands with DICER1 pathogenic variants (3,344 person-years of observation in non-probands) found that by age 10 years, 5.3% (95% CI, 0.6% to 9.7%) of non-probands had developed a neoplasm (females, 4.0%; males, 6.6%). By age 50 years, 19.3% (95% CI, 8.4% to 29.0%) of non-probands had developed a neoplasm (females, 26.5%; males, 10.2%).

Most individuals with pathogenic variants in DICER1 are healthy or have only minor DICER1-associaited conditions. The most severe manifestations tend to present in early childhood with adulthood characterized by good health. The majority of tumors in individuals with DICER1 pathogenic variants occur in individuals younger than 40. Many of these tumors typically only occur in childhood, including: PPB (before age 7), CN (before age 4), CBME typically occurs in young children, pituitary blastoma (before age 2), and childhood pineoblastoma (only one has been reported associated with a DICER1 mutation).

Surveillance recommendations:
In order to detect pulmonary cysts or PPB (one of the most important causes of DICER1-associated morbidity and mortality), chest x-rays are recommended every 6 months from birth to through age 7 years and then annually from 8-12 years. A chest computed tomography (CT) (with efforts to minimize radiation) should be obtained by 9 months of age, preferably between 3 and 6 months of age and repeated at approximately 2.5 years of age.

Abdominal ultrasound is recommended for the detection in infancy or at the time of the first chest CT then every 6-12 months until at least 8 years of age. Annual ultrasound may be considered until 12 years of age.

Beginning at ages 8-10 females should receive pelvic ultrasound performed in conjunction with abdominal ultrasound (every 6-12 months) until at least age 40 or as needed for signs and symptoms.

Individuals should undergo thyroid ultrasound with assessment for regional adenopathy every 2 to 3 years starting at age 8 or as needed for signs and symptoms.

An annual routine dilated ophthalmologic exam with visual acuity screening is recommended from age 3 to at least age 10 for detection of CBME.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1769 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Genomic newborn screening: BabyScreen+ v0.1769 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1769 BRCA1 Zornitza Stark Phenotypes for gene: BRCA1 were changed from Breast-ovarian cancer, familial, 1 to Fanconi anemia, complementation group S, MIM# 617883
Genomic newborn screening: BabyScreen+ v0.1768 BRCA1 Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1767 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1767 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1766 BRCA1 Zornitza Stark Tag treatable tag was added to gene: BRCA1.
Tag haematological tag was added to gene: BRCA1.
Genomic newborn screening: BabyScreen+ v0.1766 BRCA1 Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group S, MIM# 617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1766 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Genomic newborn screening: BabyScreen+ v0.1766 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1766 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from Fanconi anaemia, complementation group D, MIM#1 605724; Fanconi anemia, complementation group D1; Breast-ovarian cancer, familial, 2 to Fanconi anaemia, complementation group D1, MIM# 605724
Genomic newborn screening: BabyScreen+ v0.1765 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1764 BRCA2 Zornitza Stark Classified gene: BRCA2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1764 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1763 BRCA2 Zornitza Stark Tag treatable tag was added to gene: BRCA2.
Tag haematological tag was added to gene: BRCA2.
Genomic newborn screening: BabyScreen+ v0.1763 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1763 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Genomic newborn screening: BabyScreen+ v0.1763 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1763 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome; Long QT syndrome 1, MIM# 192500; Long QT syndrome-1; Jervell and Lange-Nielsen syndrome, MIM# 220400 to Long QT syndrome 1, MIM# 192500
Genomic newborn screening: BabyScreen+ v0.1762 KCNQ1 Zornitza Stark Tag for review tag was added to gene: KCNQ1.
Tag cardiac tag was added to gene: KCNQ1.
Tag treatable tag was added to gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.1762 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1762 KCNH2 Zornitza Stark Marked gene: KCNH2 as ready
Genomic newborn screening: BabyScreen+ v0.1762 KCNH2 Zornitza Stark Gene: kcnh2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1762 KCNH2 Zornitza Stark Phenotypes for gene: KCNH2 were changed from Long QT syndrome-2 to Long QT syndrome 2, MIM# 613688
Genomic newborn screening: BabyScreen+ v0.1761 KCNH2 Zornitza Stark Tag for review tag was added to gene: KCNH2.
Tag cardiac tag was added to gene: KCNH2.
Tag treatable tag was added to gene: KCNH2.
Genomic newborn screening: BabyScreen+ v0.1761 KCNH2 Zornitza Stark reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1761 TMEM43 Zornitza Stark Tag for review tag was added to gene: TMEM43.
Tag cardiac tag was added to gene: TMEM43.
Tag treatable tag was added to gene: TMEM43.
Genomic newborn screening: BabyScreen+ v0.1761 TMEM43 Zornitza Stark reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1761 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Genomic newborn screening: BabyScreen+ v0.1761 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1761 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Genomic newborn screening: BabyScreen+ v0.1760 PKP2 Zornitza Stark Tag for review tag was added to gene: PKP2.
Tag cardiac tag was added to gene: PKP2.
Tag treatable tag was added to gene: PKP2.
Genomic newborn screening: BabyScreen+ v0.1760 PKP2 Zornitza Stark reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1760 DSP Zornitza Stark Marked gene: DSP as ready
Genomic newborn screening: BabyScreen+ v0.1760 DSP Zornitza Stark Gene: dsp has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1760 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Genomic newborn screening: BabyScreen+ v0.1759 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1758 DSP Zornitza Stark Tag for review tag was added to gene: DSP.
Tag cardiac tag was added to gene: DSP.
Tag treatable tag was added to gene: DSP.
Genomic newborn screening: BabyScreen+ v0.1758 DSP Zornitza Stark reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1758 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Genomic newborn screening: BabyScreen+ v0.1758 DSG2 Zornitza Stark Gene: dsg2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1758 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Genomic newborn screening: BabyScreen+ v0.1757 DSG2 Zornitza Stark Tag for review tag was added to gene: DSG2.
Tag cardiac tag was added to gene: DSG2.
Tag treatable tag was added to gene: DSG2.
Genomic newborn screening: BabyScreen+ v0.1757 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1757 JUP Zornitza Stark Marked gene: JUP as ready
Genomic newborn screening: BabyScreen+ v0.1757 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1757 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12; Naxos disease to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214
Genomic newborn screening: BabyScreen+ v0.1756 JUP Zornitza Stark Tag for review tag was added to gene: JUP.
Tag cardiac tag was added to gene: JUP.
Tag treatable tag was added to gene: JUP.
Genomic newborn screening: BabyScreen+ v0.1756 JUP Zornitza Stark reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 MIM# 611528, Naxos disease MIM# 601214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1756 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Genomic newborn screening: BabyScreen+ v0.1756 DSC2 Zornitza Stark Gene: dsc2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1756 DSC2 Zornitza Stark Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Genomic newborn screening: BabyScreen+ v0.1755 DSC2 Zornitza Stark Mode of inheritance for gene: DSC2 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+ v0.1754 DSC2 Zornitza Stark Tag for review tag was added to gene: DSC2.
Tag cardiac tag was added to gene: DSC2.
Tag treatable tag was added to gene: DSC2.
Genomic newborn screening: BabyScreen+ v0.1754 DSC2 Zornitza Stark edited their review of gene: DSC2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1754 DSC2 Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1754 OAT Zornitza Stark Marked gene: OAT as ready
Genomic newborn screening: BabyScreen+ v0.1754 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1754 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1754 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1753 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to gNBS. Sources: ClinGen
for review, treatable, metabolic tags were added to gene: OAT.
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Rated as 'moderate actionability' in paediatric patients by ClinGen.

GA due to deficiency of the enzyme ornithine aminotransferase (OAT) is characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. GA first presents as night blindness and constriction of the visual field caused by sharply demarcated circular areas of chorioretinal atrophy in the periphery. Atrophic areas progressively increase, coalesce, and spread towards the macula leading to central visual loss and blindness (vision less than 20/200).

Age at diagnosis ranges from 1 month to 44 years. The condition is characterized by the development of chorioretinal atrophic patches that start in the mid-peripheral retina in the first decade of life. Myopia, night blindness, changes in the macula (including cystic changes), and visual field affection usually start in the first or second decade. Most patients with GA have posterior subcapsular cataracts by the end of the second decade. Irreversible loss of vision and blindness generally occurs between 40 and 55 years of age but is highly variable.

Treatment of GA consists mainly of dietary modifications to help lower elevated systemic ornithine levels. Restriction of dietary arginine, a precursor of ornithine, appears to have therapeutic value. Pediatric patients undergoing arginine restriction should receive enough calories in their diet supplemented by essential amino acids, vitamins, and minerals to avoid malnutrition and excessive break down of endogenous proteins.

A long-term observational study of 27 patients with GA, 17 who complied with the arginine-restricted diet and 10 who were noncompliant, found that at 14 years follow-up the rates of vision loss were significantly slower in the compliant group for 3 of the 4 outcome measures, when adjusted for age.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1752 PCSK9 Zornitza Stark Marked gene: PCSK9 as ready
Genomic newborn screening: BabyScreen+ v0.1752 PCSK9 Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1752 PCSK9 Zornitza Stark Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia to Hypercholesterolaemia, familial, 3, MIM# 603776
Genomic newborn screening: BabyScreen+ v0.1751 PCSK9 Zornitza Stark Classified gene: PCSK9 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1751 PCSK9 Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1750 PCSK9 Zornitza Stark Tag for review tag was added to gene: PCSK9.
Tag treatable tag was added to gene: PCSK9.
Tag metabolic tag was added to gene: PCSK9.
Genomic newborn screening: BabyScreen+ v0.1750 PCSK9 Zornitza Stark reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1750 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489 to Carney complex, type 1, MIM# 160980
Genomic newborn screening: BabyScreen+ v0.1749 PRKAR1A Zornitza Stark Classified gene: PRKAR1A as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1749 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1748 PRKAR1A Zornitza Stark Tag for review tag was added to gene: PRKAR1A.
Tag cancer tag was added to gene: PRKAR1A.
Tag treatable tag was added to gene: PRKAR1A.
Genomic newborn screening: BabyScreen+ v0.1748 PRKAR1A Zornitza Stark Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1748 PRKAR1A Zornitza Stark edited their review of gene: PRKAR1A: Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen, principally due to benefit from early detection of cardiac myxomas through surveillance.

CNC is associated with skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas.

Lentigines are the most common presenting feature of CNC and may be present at birth. Typically, they increase in number at puberty, fade after the fourth decade, but may still be evident in the eighth decade. Cutaneous myxomas appear between birth and the fourth decade. Cardiac myxomas may occur at a young age. Breast myxomas occur in females after puberty. Males and females may develop nipple myxomas at any age. In a minority of individuals, PPNAD presents in the first two to three years; in the majority, it presents in the second or third decade. LCCSCT often present in the first decade. Signs and symptoms of CNC may be present at birth, but the median age of diagnosis is 20 years. Most patients with CNC present with a mild increase in GH. However, clinically evident acromegaly is a relatively frequent manifestation of CNC, occurring in approximately 10% of adults at the time of presentation. Most individuals with CNC have a normal life span. However, because some die at an early age, the average life expectancy for individuals with CNC is 50 years. Causes of death include complications of cardiac myxoma (myxoma emboli, cardiomyopathy, cardiac arrhythmia, and surgical intervention), metastatic or intracranial PMS, thyroid carcinoma, and metastatic pancreatic and testicular tumors.

The only preventive measure in an asymptomatic individual is surgical removal of a heart tumor (cardiac myxoma) prior to the development of heart dysfunction, stroke, or other embolism. Cardiac myxomas should be diagnosed early through regular screening.

Development of metabolic abnormalities from Cushing syndrome or arthropathy and other complications from acromegaly may be prevented by medical or surgical treatment of the respective endocrine manifestations.

The overall penetrance of CNC in those with a PRKAR1A pathogenic variant is greater than 95% by age 50 years. 30-60% have cardiac myxomas.; Changed rating: GREEN; Changed phenotypes: Carney complex, type 1, MIM# 160980
Genomic newborn screening: BabyScreen+ v0.1748 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Genomic newborn screening: BabyScreen+ v0.1748 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1748 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from Diamond-Blackfan anaemia 9, MIM# 613308; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 9, MIM# 613308
Genomic newborn screening: BabyScreen+ v0.1747 RPS10 Zornitza Stark Classified gene: RPS10 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1747 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1746 RPS10 Zornitza Stark Tag treatable tag was added to gene: RPS10.
Tag haematological tag was added to gene: RPS10.
Genomic newborn screening: BabyScreen+ v0.1746 RPS10 Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1746 MEN1 Zornitza Stark Tag treatable tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.1746 MEN1 Zornitza Stark changed review comment from: For review re age of onset: surveillance starts age 5, disease onset generally later.; to: For review re age of onset: surveillance starts age 5, disease onset generally later.

Rated as 'strong actionability' in paediatric patients by ClinGen.

Parathyroid tumors, which cause PHPT, are the most common feature and the first clinical manifestation in 90% of individuals with MEN1 with onset typically between ages 20 and 25 years. Almost all (95-100%) individuals with MEN1 can expect to have PHPT by age 50 years. However, MEN1 affects all age groups, with a reported age range of 5 to 81 years; 17% of MEN1 tumors are diagnosed under age 21. Untreated patients with MEN1 have a decreased life expectancy with a 50% probability of death by age 50. The cause of death in 50-70% of cases is due to a malignant tumor process or sequelae of the disease, with malignancies accounting for 30% of all deaths.
Genomic newborn screening: BabyScreen+ v0.1746 MEN1 Zornitza Stark Tag for review tag was added to gene: MEN1.
Tag cancer tag was added to gene: MEN1.
Genomic newborn screening: BabyScreen+ v0.1746 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Genomic newborn screening: BabyScreen+ v0.1746 SCN5A Zornitza Stark Gene: scn5a has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1746 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Long QT syndrome; Heart block, progressive, type IA, MIM# 113900 to Long QT syndrome 3 (MIM#603830); Brugada syndrome 1, MIM# 601144
Genomic newborn screening: BabyScreen+ v0.1745 SCN5A Zornitza Stark Tag for review tag was added to gene: SCN5A.
Tag cardiac tag was added to gene: SCN5A.
Tag treatable tag was added to gene: SCN5A.
Genomic newborn screening: BabyScreen+ v0.1745 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 3 (MIM#603830), Brugada syndrome 1, MIM# 601144; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1745 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from Pendred syndrome, MIM #274600 to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600
Genomic newborn screening: BabyScreen+ v0.1744 SLC26A4 Zornitza Stark Classified gene: SLC26A4 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1744 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1743 SLC26A4 Zornitza Stark Tag for review was removed from gene: SLC26A4.
Tag deafness tag was added to gene: SLC26A4.
Genomic newborn screening: BabyScreen+ v0.1743 SLC26A4 Zornitza Stark reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791, Pendred syndrome 274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1743 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Genomic newborn screening: BabyScreen+ v0.1743 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1743 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from Arrhythmogenic right ventricular dysplasia to Loeys-Dietz syndrome 5 , MIM#615582
Genomic newborn screening: BabyScreen+ v0.1742 TGFB3 Zornitza Stark Classified gene: TGFB3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1742 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1741 TGFB3 Zornitza Stark Tag for review tag was added to gene: TGFB3.
Tag cardiac tag was added to gene: TGFB3.
Tag treatable tag was added to gene: TGFB3.
Genomic newborn screening: BabyScreen+ v0.1741 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5 , MIM#615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1741 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Genomic newborn screening: BabyScreen+ v0.1741 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1741 TGFB2 Zornitza Stark Classified gene: TGFB2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1741 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1740 TGFB2 Zornitza Stark Tag for review tag was added to gene: TGFB2.
Tag cardiac tag was added to gene: TGFB2.
Tag treatable tag was added to gene: TGFB2.
Genomic newborn screening: BabyScreen+ v0.1740 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to gNBS. Sources: ClinGen
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816
Review for gene: TGFB2 was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms which are the major source of morbidity and mortality. Aortic growth can be faster than 10mm per year. Aortic dissection has been observed in early childhood, and the mean age of death is 26 years. Other life-threatening manifestations include spontaneous rupture of the spleen, bowel, and uterine rupture during pregnancy.

Prophylactic surgical repair is typically recommended at an aortic diameter of ≥ 4.2 cm.

Beta-blockers or other medications can be used to reduce hemodynamic stress.

Consider Medicalert bracelet.

Use of subacute bacterial endocarditis prophylaxis should be considered for individuals with connective tissue disorders and documented evidence of mitral and/or aortic regurgitation who are undergoing dental work or other procedures expected to contaminate the bloodstream with bacteria.

Because of a high risk of cervical spine instability, a flexion and extension x-ray of the cervical spine should be performed prior to intubation or any other procedure involving manipulation of the neck.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1739 TRDN Zornitza Stark Marked gene: TRDN as ready
Genomic newborn screening: BabyScreen+ v0.1739 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1739 TRDN Zornitza Stark Phenotypes for gene: TRDN were changed from Catecholaminergic polymorphic ventricular tachycardia to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441
Genomic newborn screening: BabyScreen+ v0.1738 TRDN Zornitza Stark Classified gene: TRDN as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1738 TRDN Zornitza Stark Gene: trdn has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1737 TRDN Zornitza Stark Tag for review tag was added to gene: TRDN.
Tag cardiac tag was added to gene: TRDN.
Tag treatable tag was added to gene: TRDN.
Genomic newborn screening: BabyScreen+ v0.1737 TRDN Zornitza Stark reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1737 TECRL Zornitza Stark Marked gene: TECRL as ready
Genomic newborn screening: BabyScreen+ v0.1737 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1737 TECRL Zornitza Stark Classified gene: TECRL as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1737 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1736 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: TECRL.
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1735 CALM3 Zornitza Stark Marked gene: CALM3 as ready
Genomic newborn screening: BabyScreen+ v0.1735 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1735 CALM3 Zornitza Stark Classified gene: CALM3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1735 CALM3 Zornitza Stark Gene: calm3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1734 CALM3 Zornitza Stark gene: CALM3 was added
gene: CALM3 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: CALM3.
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM3 were set to Ventricular tachycardia, catecholaminergic polymorphic 6 , MIM# 618782
Penetrance for gene: CALM3 were set to Incomplete
Review for gene: CALM3 was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1733 CALM2 Zornitza Stark Marked gene: CALM2 as ready
Genomic newborn screening: BabyScreen+ v0.1733 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1733 CALM2 Zornitza Stark Classified gene: CALM2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1733 CALM2 Zornitza Stark Gene: calm2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1732 CALM2 Zornitza Stark gene: CALM2 was added
gene: CALM2 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: CALM2.
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM2 were set to Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Review for gene: CALM2 was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1731 CALM1 Zornitza Stark Marked gene: CALM1 as ready
Genomic newborn screening: BabyScreen+ v0.1731 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1731 CALM1 Zornitza Stark Classified gene: CALM1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1731 CALM1 Zornitza Stark Gene: calm1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1730 CALM1 Zornitza Stark gene: CALM1 was added
gene: CALM1 was added to gNBS. Sources: ClinGen
for review, cardiac, treatable tags were added to gene: CALM1.
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM1 were set to Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916
Penetrance for gene: CALM1 were set to Incomplete
Review for gene: CALM1 was set to GREEN
Added comment: Rated as 'strong actionability' for paediatric patients by ClinGen.

The mean age of onset of symptoms (usually a syncopal episode) of CPVT is between age seven and twelve years; onset as late as the fourth decade of life has been reported. Nearly 60% of patients have at least one syncopal episode before age 40. If untreated, CPVT is highly lethal, as approximately 30% of genetically affected individuals experience at least one cardiac arrest and up to 80% one or more syncopal spells. In untreated patients, the 8-year fatal or near-fatal event rates of 25% have been reported. Sudden death may be the first manifestation of the disease. Instances of sudden infant death syndrome (SIDS) have been associated with pathogenic variants in RYR2.

Individuals with pathogenic variants in CALM1, CALM2 or CALM3 can have a severe phenotype, with earlier onset, QT prolongation, and a high predilection for cardiac arrest and sudden death.

Beta-blockers lacking intrinsic sympathomimetic activity are recommended as a first-line therapy in all patients with a clinical diagnosis of CPVT, including those with documented spontaneous, stress-induced VAs. Guidelines differ in their recommendations about utilizing beta-blocker therapy in phenotype negative individuals. Treatment with beta blockers is associated with a reduction in adverse cardiac events. However, variability in outcome with beta-blocker therapy is due to multiple factors, including dosing and compliance. In a study of 101 patients with CPVT (22 diagnosed clinically and 79 diagnosed molecularly), 81 were administered beta-blockers (57 symptomatic and 24 asymptomatic individuals). Estimated 4- and 8-year cardiac event rates were 8% and 27%, respectively in patients taking beta-blockers, and 33% and 58% in those not taking beta blockers (log-rank p=0.01). Corresponding statistics for fatal events were 1% and 11% with beta-blockers vs. 18% and 25% without (log-rank p=0.05). Event rates in asymptomatic patients with a positive genotype were similar to other patients. In multivariate models, absence of beta-blockers was an independent predictor of cardiac events (hazard ratio [HR], 5.48; 95% CI, 1.8 to 16.7, p=0.003) and of fatal events (HR, 5.54; 95% CI, 1.2 to 26.1, p=0.03). Of the 37 asymptomatic patients with a positive genotype, 9 (24%) had cardiac events.

In patients with CPVT and recurrent sustained VT or syncope, while receiving adequate or maximally tolerated beta blocker, treatment intensification with either combination medication therapy (e.g., beta blocker with flecainide), left cardiac sympathetic denervation, and/or an ICD is recommended.

Clinical penetrance ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years.

For review: age of onset and penetrance.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1729 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Genomic newborn screening: BabyScreen+ v0.1729 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1729 RPE65 Zornitza Stark Classified gene: RPE65 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1729 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1728 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to gNBS. Sources: ClinGen
for review, treatable, ophthalmological tags were added to gene: RPE65.
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2 MIM#204100; Retinitis pigmentosa 20 MIM#613794
Review for gene: RPE65 was set to GREEN
Added comment: Assessed as 'strong actionability' in paediatric patients by ClinGen.

Biallelic RPE65 mutation-associated retinal dystrophy is a form of IRD caused by biallelic pathogenic variants in RPE65; it presents as a spectrum of disease with variable age of onset and progression of vision loss. Common clinical findings across the spectrum include night blindness, progressive loss of visual fields and loss of central vision.

In LCA, night blindness often occurs from birth. Characteristically, these patients have residual cone-mediated vision in the first to third decades with progressive visual field loss until complete blindness is observed, most often in mid- to late-adulthood. A range of age of onset has been described for night blindness in RP, but it typically onsets in later childhood.

In December 2017, the FDA approved LUXTURNA (voretigene neparvovec-rzyl) gene therapy for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. The FDA’s conclusion of efficacy is based on improvement in a functional vision score over 1 year in a single open-label controlled Phase 3 study of 31 affected patients. The average age of the 31 randomized patients was 15 years (range 4 to 44 years), including 64% pediatric subjects (n=20, age from 4 to 17 years) and 36% adults (n=11). Functional vision was scored by a patient’s ability to navigate a course in various luminance levels. Using both treated eyes of the 21 subjects in the LUXTURNA treatment group, 11 (52%) had a clinically meaningful score improvement, while only one of the ten (10%) subjects in the control group had a clinically meaningful score improvement. Using the first treated eye only, 15/21 (71%) had a clinically meaningful score improvement, while no comparable score improvement was observed in controls. Other secondary clinical outcomes were also examined. Analysis of white light full-field light sensitivity threshold testing showed statistically significant improvement at 1 year in the LUXTURNA treatment group compared to the control group. The change in visual acuity was not significantly different between the LUXTURNA and control groups.

LUXTURNA is administered subretinally by injection. Per the FDA package insert, the most common adverse reactions (incidence ≥ 5%) in the clinical trials for LUXTURNA included conjunctival hyperemia, cataract, increased intraocular pressure, retinal tear, dellen (thinning of the corneal stroma), and macular hole. Several other ocular adverse effects were also reported, including risk of endophthalmitis. Safety data was included on the basis of 41 patients (81 eyes).

For review: availability of therapy?
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1727 CP Zornitza Stark Marked gene: CP as ready
Genomic newborn screening: BabyScreen+ v0.1727 CP Zornitza Stark Gene: cp has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1727 CP Zornitza Stark Phenotypes for gene: CP were changed from Aceruloplasminaemia to Aceruloplasminaemia, MIM#604290
Genomic newborn screening: BabyScreen+ v0.1726 CP Zornitza Stark Tag treatable tag was added to gene: CP.
Tag metabolic tag was added to gene: CP.
Genomic newborn screening: BabyScreen+ v0.1726 CP Zornitza Stark reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1726 WT1 Zornitza Stark Marked gene: WT1 as ready
Genomic newborn screening: BabyScreen+ v0.1726 WT1 Zornitza Stark Gene: wt1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1726 WT1 Zornitza Stark Phenotypes for gene: WT1 were changed from Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome to Wilms tumor, type 1, MIM#194070
Genomic newborn screening: BabyScreen+ v0.1725 WT1 Zornitza Stark Tag for review tag was added to gene: WT1.
Tag cancer tag was added to gene: WT1.
Tag treatable tag was added to gene: WT1.
Genomic newborn screening: BabyScreen+ v0.1725 WT1 Zornitza Stark reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumor, type 1, MIM#194070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1725 ITGB3 Zornitza Stark Marked gene: ITGB3 as ready
Genomic newborn screening: BabyScreen+ v0.1725 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1725 ITGB3 Zornitza Stark Classified gene: ITGB3 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1725 ITGB3 Zornitza Stark Gene: itgb3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1724 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to gNBS. Sources: ClinGen
treatable, haematological tags were added to gene: ITGB3.
Mode of inheritance for gene: ITGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia 2, MIM# 619267
Review for gene: ITGB3 was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

GT can present soon after birth with episodic mucocutaneous bleeding, purpura, petechiae, unprovoked bruising, and excessive bleeding from the umbilical stump or post-circumcision. Major bleeding complications during the neonatal period, such as ICH following delivery are rare. The clinical severity of GT tends to diminish with age, although the bleeding manifestations persist and are life-long.

Recombinant activated factor VII (rFVIIa) may be considered for patients with: moderate to severe acute bleeding; for treatment of refractory minor bleeds; for prophylaxis in patients with frequent severe bleeds; treatment during minor and major surgery; and in patients who are refractory to platelet transfusion. Some guidelines suggest utilizing rFVIIa as a first line therapy and saving platelet transfusion for more severe or non-responsive bleeds. High doses have been successful, particularly if used early and upfront. rFVIIa in a dose of =80 µg/kg at intervals of 2.5 h or less were observed to be safe and effective in nonsurgical bleeds, minor and major procedures in patients with or without antibodies, and/or refractoriness.

The International Glanzmann Thrombasthenia Registry (GTR), published in 2015, studied 184 patients with 829 bleeding episodes and 96 patients with 206 surgical interventions. rFVIIa alone was used in 124/829 bleeds and the proportion of successful treatment to stop bleeding was 91%. In patients without antibodies/refractoriness, rFVIIa, either alone or with antifibrinolytics, and platelets±antifibrinolytics were rated 100% effective for 24 minor and 4 major procedures. The lowest effectiveness of rFVIIa treatment alone was 88.9% (16/18 effective minor procedures) in refractory patients with platelet antibodies.

Desmopressin (DDAVP) may be considered as an additional treatment for mild bleeding episodes. DDAVP has been shown to be effective in many bleeding disorders, including inherited platelet function disorders. However, DDAVP efficacy among GT patients has not been established and guideline recommendations are conflicting.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1723 ITGA2B Zornitza Stark Marked gene: ITGA2B as ready
Genomic newborn screening: BabyScreen+ v0.1723 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1723 ITGA2B Zornitza Stark Classified gene: ITGA2B as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1723 ITGA2B Zornitza Stark Gene: itga2b has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1722 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to gNBS. Sources: ClinGen
treatable, haematological tags were added to gene: ITGA2B.
Mode of inheritance for gene: ITGA2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800
Review for gene: ITGA2B was set to GREEN
Added comment: Rated as 'strong actionability' in paediatric patients by ClinGen.

GT can present soon after birth with episodic mucocutaneous bleeding, purpura, petechiae, unprovoked bruising, and excessive bleeding from the umbilical stump or post-circumcision. Major bleeding complications during the neonatal period, such as ICH following delivery are rare. The clinical severity of GT tends to diminish with age, although the bleeding manifestations persist and are life-long.

Recombinant activated factor VII (rFVIIa) may be considered for patients with: moderate to severe acute bleeding; for treatment of refractory minor bleeds; for prophylaxis in patients with frequent severe bleeds; treatment during minor and major surgery; and in patients who are refractory to platelet transfusion. Some guidelines suggest utilizing rFVIIa as a first line therapy and saving platelet transfusion for more severe or non-responsive bleeds. High doses have been successful, particularly if used early and upfront. rFVIIa in a dose of =80 µg/kg at intervals of 2.5 h or less were observed to be safe and effective in nonsurgical bleeds, minor and major procedures in patients with or without antibodies, and/or refractoriness.

The International Glanzmann Thrombasthenia Registry (GTR), published in 2015, studied 184 patients with 829 bleeding episodes and 96 patients with 206 surgical interventions. rFVIIa alone was used in 124/829 bleeds and the proportion of successful treatment to stop bleeding was 91%. In patients without antibodies/refractoriness, rFVIIa, either alone or with antifibrinolytics, and platelets±antifibrinolytics were rated 100% effective for 24 minor and 4 major procedures. The lowest effectiveness of rFVIIa treatment alone was 88.9% (16/18 effective minor procedures) in refractory patients with platelet antibodies.

Desmopressin (DDAVP) may be considered as an additional treatment for mild bleeding episodes. DDAVP has been shown to be effective in many bleeding disorders, including inherited platelet function disorders. However, DDAVP efficacy among GT patients has not been established and guideline recommendations are conflicting.
Sources: ClinGen
Genomic newborn screening: BabyScreen+ v0.1721 F7 Zornitza Stark Tag for review was removed from gene: F7.
Genomic newborn screening: BabyScreen+ v0.1721 F7 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable severity.

Treatment: Recombinant coagulation Factor VIIa

Non-genetic confirmatory testing: factor VII level; to: Well established gene-disease association.

Variable severity.

Treatment: Recombinant coagulation Factor VIIa

Non-genetic confirmatory testing: factor VII level

Rated as 'strong actionability' in paediatric patients by ClinGen.

Clinical expression of factor VII deficiency is highly variable, and no consistent relationship has been found between the severity of the hemorrhagic syndrome and the residual levels of FVII activity. Individuals can be completely asymptomatic despite a very low FVII level. A bleeding history appears more predictive of further bleeding than the factor VII level. Factor VII levels increase during pregnancy, but levels usually remain insufficient for hemostasis in severely affected cases. Individuals with no history of bleeding do not appear to be at increased risk of PPH. Heterozygotes often have approximately half-normal levels of coagulation factors and are often asymptomatic. However, up to 2% of patients with severe bleeding phenotype are heterozygotes.

Consider prophylaxis using rFVIIa in certain circumstances. Long term prophylaxis should be considered for cases with a personal or family history of severe bleeding or with FVII activity <0.01 IU/ml using rFVIIa, adjusting to maintain clinical response. Short term prophylaxis should be considered for cases for neonates without a personal or family history of severe bleeding but who have FVII activity 0.01-0.05 IU/ml up to 6-12 months of age.
Genomic newborn screening: BabyScreen+ v0.1721 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Genomic newborn screening: BabyScreen+ v0.1721 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1721 ABCC8 Zornitza Stark Tag treatable tag was added to gene: ABCC8.
Tag endocrine tag was added to gene: ABCC8.
Genomic newborn screening: BabyScreen+ v0.1721 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM 618857; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1721 COL9A2 Zornitza Stark Tag treatable tag was added to gene: COL9A2.
Tag ophthalmological tag was added to gene: COL9A2.
Genomic newborn screening: BabyScreen+ v0.1721 COL9A2 Zornitza Stark edited their review of gene: COL9A2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1721 COL9A2 Zornitza Stark reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM 614284; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1721 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Genomic newborn screening: BabyScreen+ v0.1721 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1721 COL9A1 Zornitza Stark Tag treatable tag was added to gene: COL9A1.
Tag ophthalmological tag was added to gene: COL9A1.
Genomic newborn screening: BabyScreen+ v0.1721 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Genomic newborn screening: BabyScreen+ v0.1721 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1721 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from Char syndrome to Char syndrome, MIM 169100
Genomic newborn screening: BabyScreen+ v0.1720 TFAP2B Zornitza Stark Classified gene: TFAP2B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1720 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1719 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, MIM 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1719 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Genomic newborn screening: BabyScreen+ v0.1719 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1719 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from Branchiooculofacial syndrome to Branchiooculofacial syndrome, MIM 107580
Genomic newborn screening: BabyScreen+ v0.1718 TFAP2A Zornitza Stark Classified gene: TFAP2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1718 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1717 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, MIM 107580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1717 TECTA Zornitza Stark Marked gene: TECTA as ready
Genomic newborn screening: BabyScreen+ v0.1717 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1717 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from Deafness to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Genomic newborn screening: BabyScreen+ v0.1716 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1715 TECTA Zornitza Stark Tag deafness tag was added to gene: TECTA.
Genomic newborn screening: BabyScreen+ v0.1715 TCN2 Zornitza Stark Publications for gene: TCN2 were set to
Genomic newborn screening: BabyScreen+ v0.1714 TCN2 Zornitza Stark Tag treatable tag was added to gene: TCN2.
Tag metabolic tag was added to gene: TCN2.
Genomic newborn screening: BabyScreen+ v0.1714 TCIRG1 Zornitza Stark Tag treatable tag was added to gene: TCIRG1.
Tag skeletal tag was added to gene: TCIRG1.
Genomic newborn screening: BabyScreen+ v0.1714 TCF3 Zornitza Stark Tag treatable tag was added to gene: TCF3.
Tag immunological tag was added to gene: TCF3.
Genomic newborn screening: BabyScreen+ v0.1714 TAT Zornitza Stark Tag metabolic tag was added to gene: TAT.
Genomic newborn screening: BabyScreen+ v0.1714 STXBP2 Zornitza Stark Tag treatable tag was added to gene: STXBP2.
Tag immunological tag was added to gene: STXBP2.
Genomic newborn screening: BabyScreen+ v0.1714 STX11 Zornitza Stark Tag treatable tag was added to gene: STX11.
Tag immunological tag was added to gene: STX11.
Genomic newborn screening: BabyScreen+ v0.1714 STAT3 Zornitza Stark Tag treatable tag was added to gene: STAT3.
Tag immunological tag was added to gene: STAT3.
Genomic newborn screening: BabyScreen+ v0.1714 STAR Zornitza Stark Tag treatable tag was added to gene: STAR.
Tag endocrine tag was added to gene: STAR.
Genomic newborn screening: BabyScreen+ v0.1714 SRP54 Zornitza Stark Tag treatable tag was added to gene: SRP54.
Tag immunological tag was added to gene: SRP54.
Genomic newborn screening: BabyScreen+ v0.1714 SPR Zornitza Stark Tag treatable tag was added to gene: SPR.
Tag neurological tag was added to gene: SPR.
Genomic newborn screening: BabyScreen+ v0.1714 SP110 Zornitza Stark Tag treatable tag was added to gene: SP110.
Tag immunological tag was added to gene: SP110.
Genomic newborn screening: BabyScreen+ v0.1714 SMPD1 Zornitza Stark Tag treatable tag was added to gene: SMPD1.
Tag metabolic tag was added to gene: SMPD1.
Genomic newborn screening: BabyScreen+ v0.1714 SMN1 Zornitza Stark Tag neurological tag was added to gene: SMN1.
Genomic newborn screening: BabyScreen+ v0.1714 SLC5A7 Zornitza Stark Tag treatable tag was added to gene: SLC5A7.
Tag neurological tag was added to gene: SLC5A7.
Genomic newborn screening: BabyScreen+ v0.1714 SLC34A3 Zornitza Stark Tag skeletal tag was added to gene: SLC34A3.
Genomic newborn screening: BabyScreen+ v0.1714 SLC26A3 Zornitza Stark Tag treatable tag was added to gene: SLC26A3.
Tag gastrointestinal tag was added to gene: SLC26A3.
Genomic newborn screening: BabyScreen+ v0.1714 SLC25A15 Zornitza Stark Tag treatable tag was added to gene: SLC25A15.
Tag metabolic tag was added to gene: SLC25A15.
Genomic newborn screening: BabyScreen+ v0.1712 SLC22A5 Zornitza Stark Tag metabolic tag was added to gene: SLC22A5.
Genomic newborn screening: BabyScreen+ v0.1712 SLC19A3 Zornitza Stark Tag metabolic tag was added to gene: SLC19A3.
Genomic newborn screening: BabyScreen+ v0.1712 SLC19A2 Zornitza Stark Tag metabolic tag was added to gene: SLC19A2.
Genomic newborn screening: BabyScreen+ v0.1712 SLC18A3 Zornitza Stark Tag treatable tag was added to gene: SLC18A3.
Tag neurological tag was added to gene: SLC18A3.
Genomic newborn screening: BabyScreen+ v0.1712 SLC12A1 Zornitza Stark Tag treatable tag was added to gene: SLC12A1.
Tag renal tag was added to gene: SLC12A1.
Genomic newborn screening: BabyScreen+ v0.1712 SI Zornitza Stark Tag treatable tag was added to gene: SI.
Tag gastrointestinal tag was added to gene: SI.
Genomic newborn screening: BabyScreen+ v0.1712 SH2D1A Zornitza Stark Tag treatable tag was added to gene: SH2D1A.
Tag immunological tag was added to gene: SH2D1A.
Genomic newborn screening: BabyScreen+ v0.1712 SCNN1B Zornitza Stark Tag treatable tag was added to gene: SCNN1B.
Tag endocrine tag was added to gene: SCNN1B.
Genomic newborn screening: BabyScreen+ v0.1712 SCNN1A Zornitza Stark Tag endocrine tag was added to gene: SCNN1A.
Genomic newborn screening: BabyScreen+ v0.1712 SBDS Zornitza Stark Tag haematological tag was added to gene: SBDS.
Tag gastrointestinal tag was added to gene: SBDS.
Genomic newborn screening: BabyScreen+ v0.1712 SAMHD1 Zornitza Stark Tag for review tag was added to gene: SAMHD1.
Tag neurological tag was added to gene: SAMHD1.
Genomic newborn screening: BabyScreen+ v0.1712 RET Zornitza Stark Marked gene: RET as ready
Genomic newborn screening: BabyScreen+ v0.1712 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1712 RDX Zornitza Stark Tag deafness tag was added to gene: RDX.
Genomic newborn screening: BabyScreen+ v0.1712 QDPR Zornitza Stark Tag metabolic tag was added to gene: QDPR.
Genomic newborn screening: BabyScreen+ v0.1712 PTS Zornitza Stark Tag metabolic tag was added to gene: PTS.
Genomic newborn screening: BabyScreen+ v0.1712 PSPH Zornitza Stark Marked gene: PSPH as ready
Genomic newborn screening: BabyScreen+ v0.1712 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1712 PSPH Zornitza Stark Publications for gene: PSPH were set to
Genomic newborn screening: BabyScreen+ v0.1711 PSPH Zornitza Stark Classified gene: PSPH as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1711 PSPH Zornitza Stark Gene: psph has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1710 PSPH Zornitza Stark edited their review of gene: PSPH: Changed publications: 16763900, 26589312
Genomic newborn screening: BabyScreen+ v0.1710 PSPH Zornitza Stark Tag for review tag was added to gene: PSPH.
Genomic newborn screening: BabyScreen+ v0.1710 PSPH Zornitza Stark reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 26589312; Phenotypes: Phosphoserine phosphatase deficiency MIM#614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1710 PKLR Zornitza Stark Tag treatable tag was added to gene: PKLR.
Tag metabolic tag was added to gene: PKLR.
Genomic newborn screening: BabyScreen+ v0.1710 PHKG2 Zornitza Stark Tag metabolic tag was added to gene: PHKG2.
Genomic newborn screening: BabyScreen+ v0.1710 PHKB Zornitza Stark Tag treatable tag was added to gene: PHKB.
Tag metabolic tag was added to gene: PHKB.
Genomic newborn screening: BabyScreen+ v0.1710 PHKA2 Zornitza Stark Tag treatable tag was added to gene: PHKA2.
Tag metabolic tag was added to gene: PHKA2.
Genomic newborn screening: BabyScreen+ v0.1710 PHGDH Zornitza Stark Tag metabolic tag was added to gene: PHGDH.
Genomic newborn screening: BabyScreen+ v0.1710 PGM1 Zornitza Stark Tag metabolic tag was added to gene: PGM1.
Genomic newborn screening: BabyScreen+ v0.1710 PDZD7 Zornitza Stark Tag deafness tag was added to gene: PDZD7.
Genomic newborn screening: BabyScreen+ v0.1710 PDX1 Zornitza Stark Tag treatable tag was added to gene: PDX1.
Tag endocrine tag was added to gene: PDX1.
Genomic newborn screening: BabyScreen+ v0.1710 PDHX Zornitza Stark Tag treatable tag was added to gene: PDHX.
Tag metabolic tag was added to gene: PDHX.
Genomic newborn screening: BabyScreen+ v0.1710 PDHA1 Zornitza Stark Tag treatable tag was added to gene: PDHA1.
Tag metabolic tag was added to gene: PDHA1.
Genomic newborn screening: BabyScreen+ v0.1710 PCDH15 Zornitza Stark Tag deafness tag was added to gene: PCDH15.
Genomic newborn screening: BabyScreen+ v0.1710 PCCB Zornitza Stark Tag metabolic tag was added to gene: PCCB.
Genomic newborn screening: BabyScreen+ v0.1710 PCCA Zornitza Stark Tag metabolic tag was added to gene: PCCA.
Genomic newborn screening: BabyScreen+ v0.1710 PCBD1 Zornitza Stark Tag treatable tag was added to gene: PCBD1.
Tag metabolic tag was added to gene: PCBD1.
Genomic newborn screening: BabyScreen+ v0.1710 PC Zornitza Stark Tag treatable tag was added to gene: PC.
Tag metabolic tag was added to gene: PC.
Genomic newborn screening: BabyScreen+ v0.1710 PAX8 Zornitza Stark Tag treatable tag was added to gene: PAX8.
Tag endocrine tag was added to gene: PAX8.
Genomic newborn screening: BabyScreen+ v0.1710 PAX3 Zornitza Stark Tag deafness tag was added to gene: PAX3.
Genomic newborn screening: BabyScreen+ v0.1710 PALB2 Zornitza Stark Tag treatable tag was added to gene: PALB2.
Tag haematological tag was added to gene: PALB2.
Genomic newborn screening: BabyScreen+ v0.1710 PAH Zornitza Stark Tag metabolic tag was added to gene: PAH.
Genomic newborn screening: BabyScreen+ v0.1710 OXCT1 Zornitza Stark Tag metabolic tag was added to gene: OXCT1.
Genomic newborn screening: BabyScreen+ v0.1710 OTOGL Zornitza Stark Tag deafness tag was added to gene: OTOGL.
Genomic newborn screening: BabyScreen+ v0.1710 OTOF Zornitza Stark Tag deafness tag was added to gene: OTOF.
Genomic newborn screening: BabyScreen+ v0.1710 OTOA Zornitza Stark Tag deafness tag was added to gene: OTOA.
Genomic newborn screening: BabyScreen+ v0.1710 OTC Zornitza Stark Tag metabolic tag was added to gene: OTC.
Genomic newborn screening: BabyScreen+ v0.1710 NR5A1 Zornitza Stark Tag endocrine tag was added to gene: NR5A1.
Genomic newborn screening: BabyScreen+ v0.1710 NR3C2 Zornitza Stark Tag treatable tag was added to gene: NR3C2.
Tag endocrine tag was added to gene: NR3C2.
Genomic newborn screening: BabyScreen+ v0.1710 NR0B1 Zornitza Stark Tag endocrine tag was added to gene: NR0B1.
Genomic newborn screening: BabyScreen+ v0.1710 NPC2 Zornitza Stark Tag treatable tag was added to gene: NPC2.
Tag metabolic tag was added to gene: NPC2.
Genomic newborn screening: BabyScreen+ v0.1710 NPC1 Zornitza Stark Tag treatable tag was added to gene: NPC1.
Tag metabolic tag was added to gene: NPC1.
Genomic newborn screening: BabyScreen+ v0.1710 NNT Zornitza Stark Tag endocrine tag was added to gene: NNT.
Genomic newborn screening: BabyScreen+ v0.1710 NKX2-1 Zornitza Stark Tag treatable tag was added to gene: NKX2-1.
Tag endocrine tag was added to gene: NKX2-1.
Genomic newborn screening: BabyScreen+ v0.1710 NIPAL4 Zornitza Stark Tag for review tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v0.1710 NIPAL4 Zornitza Stark commented on gene: NIPAL4: For review: treatment available?
Genomic newborn screening: BabyScreen+ v0.1710 NHEJ1 Zornitza Stark Tag immunological tag was added to gene: NHEJ1.
Genomic newborn screening: BabyScreen+ v0.1710 NF1 Zornitza Stark Tag for review tag was added to gene: NF1.
Genomic newborn screening: BabyScreen+ v0.1710 NEUROG3 Zornitza Stark Tag gastrointestinal tag was added to gene: NEUROG3.
Genomic newborn screening: BabyScreen+ v0.1710 NCF2 Zornitza Stark Tag immunological tag was added to gene: NCF2.
Genomic newborn screening: BabyScreen+ v0.1710 NCF1 Zornitza Stark Tag immunological tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v0.1710 NAGS Zornitza Stark Tag metabolic tag was added to gene: NAGS.
Genomic newborn screening: BabyScreen+ v0.1710 NAGLU Zornitza Stark Tag metabolic tag was added to gene: NAGLU.
Genomic newborn screening: BabyScreen+ v0.1710 MYSM1 Zornitza Stark Tag haematological tag was added to gene: MYSM1.
Genomic newborn screening: BabyScreen+ v0.1710 MYO7A Zornitza Stark Tag deafness tag was added to gene: MYO7A.
Genomic newborn screening: BabyScreen+ v0.1710 MYO6 Zornitza Stark Tag deafness tag was added to gene: MYO6.
Genomic newborn screening: BabyScreen+ v0.1710 MYO15A Zornitza Stark Tag deafness tag was added to gene: MYO15A.
Genomic newborn screening: BabyScreen+ v0.1710 MVK Zornitza Stark Tag metabolic tag was added to gene: MVK.
Genomic newborn screening: BabyScreen+ v0.1710 MUT Zornitza Stark Tag metabolic tag was added to gene: MUT.
Genomic newborn screening: BabyScreen+ v0.1710 MUSK Zornitza Stark Tag neurological tag was added to gene: MUSK.
Genomic newborn screening: BabyScreen+ v0.1710 MTTP Zornitza Stark Tag metabolic tag was added to gene: MTTP.
Genomic newborn screening: BabyScreen+ v0.1710 MTRR Zornitza Stark Tag treatable tag was added to gene: MTRR.
Tag metabolic tag was added to gene: MTRR.
Genomic newborn screening: BabyScreen+ v0.1710 MTR Zornitza Stark Tag treatable tag was added to gene: MTR.
Tag haematological tag was added to gene: MTR.
Genomic newborn screening: BabyScreen+ v0.1710 MRAP Zornitza Stark Tag endocrine tag was added to gene: MRAP.
Genomic newborn screening: BabyScreen+ v0.1710 MPL Zornitza Stark Tag haematological tag was added to gene: MPL.
Genomic newborn screening: BabyScreen+ v0.1710 MPI Zornitza Stark Tag metabolic tag was added to gene: MPI.
Genomic newborn screening: BabyScreen+ v0.1710 MOCS1 Zornitza Stark Tag metabolic tag was added to gene: MOCS1.
Genomic newborn screening: BabyScreen+ v0.1710 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Genomic newborn screening: BabyScreen+ v0.1710 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1710 MMADHC Zornitza Stark Tag metabolic tag was added to gene: MMADHC.
Genomic newborn screening: BabyScreen+ v0.1710 MMACHC Zornitza Stark Tag metabolic tag was added to gene: MMACHC.
Genomic newborn screening: BabyScreen+ v0.1710 MMAB Zornitza Stark Tag metabolic tag was added to gene: MMAB.
Genomic newborn screening: BabyScreen+ v0.1710 MMAA Zornitza Stark Tag metabolic tag was added to gene: MMAA.
Genomic newborn screening: BabyScreen+ v0.1710 MLYCD Zornitza Stark Tag metabolic tag was added to gene: MLYCD.
Genomic newborn screening: BabyScreen+ v0.1710 MITF Zornitza Stark Tag deafness tag was added to gene: MITF.
Genomic newborn screening: BabyScreen+ v0.1710 MEFV Zornitza Stark Tag haematological tag was added to gene: MEFV.
Genomic newborn screening: BabyScreen+ v0.1710 MCFD2 Zornitza Stark Tag haematological tag was added to gene: MCFD2.
Genomic newborn screening: BabyScreen+ v0.1710 MC2R Zornitza Stark Tag endocrine tag was added to gene: MC2R.
Genomic newborn screening: BabyScreen+ v0.1710 MARVELD2 Zornitza Stark Tag deafness tag was added to gene: MARVELD2.
Genomic newborn screening: BabyScreen+ v0.1710 MAN2B1 Zornitza Stark Tag metabolic tag was added to gene: MAN2B1.
Genomic newborn screening: BabyScreen+ v0.1710 TFAP2B David Amor reviewed gene: TFAP2B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 169100 Char syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1710 TFAP2A David Amor reviewed gene: TFAP2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 107580 Branchiooculofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1710 COL9A1 David Amor changed review comment from: Gene-disease association: strong but rare, prbably <1% of Sticller syndrome; Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Nikopoulos et al. (2011) reported 2 sisters in a Turkish family and 1 boy in a Moroccan family with features of autosomal recessive Stickler syndrome. All 3 individuals had myopia, vitreous changes, sensorineural hearing loss, and epiphyseal dysplasia. They also had exudative rhegmatogenous retinal detachment.

Severity: moderate-severe

Age of onset: congenital

Non-molecular confirmatory testing: Affected individuals have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts, and epiphyseal dysplasia

Treatment: as per other Stickler syndrome; to: Gene-disease association: strong but rare, prbably <1% of Sticller syndrome; Van Camp et al. (2006) described a consanguineous Moroccan family in which 4 of 10 sibs had features characteristic of Stickler syndrome, including moderate to severe sensorineural hearing loss, moderate to high myopia with vitreoretinopathy, and epiphyseal dysplasia. Nikopoulos et al. (2011) reported 2 sisters in a Turkish family and 1 boy in a Moroccan family with features of autosomal recessive Stickler syndrome. All 3 individuals had myopia, vitreous changes, sensorineural hearing loss, and epiphyseal dysplasia. They also had exudative rhegmatogenous retinal detachment.

Severity: moderate-severe

Age of onset: congenital

Non-molecular confirmatory testing: Affected individuals have moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, cataracts, and epiphyseal dysplasia

Treatment: as per other Stickler syndrome
Genomic newborn screening: BabyScreen+ v0.1710 COL9A2 David Amor reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 614284 ?Stickler syndrome, type V; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1710 COL9A1 David Amor reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 120210 Stickler syndrome, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1, MIM 618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor Deleted their review
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor commented on gene: ABCC8: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.

ABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes
For hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels
For neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level

Treatment: as per rx-genes
For hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

For neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor edited their review of gene: ABCC8: Changed phenotypes: MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1, MIM 618857 Diabetes mellitus, permanent neonatal 3, with or without neurologic features
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor commented on gene: ABCC8: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.

ABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes
For hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels
For neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level

Treatment: as per rx-genes
For hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

For neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor changed review comment from: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.

ABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.



Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes
For hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels
For neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level

Treatment: as per rx-genes
For hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

For neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes
; to: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.

ABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes
For hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels
For neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level

Treatment: as per rx-genes
For hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

For neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor changed review comment from: Gene-disease association: strong. Note sporadic cases with focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes, glucose, insulin, free fatty acid levels

Treatment: as per rx-genes, Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus; to: Gene-disease association: strong. Note sporadic cases of Familial hyperinsulinemic hypoglycemiawith focal adenomatous hyperplasia due to paternally inherited variants focal loss of maternal allele.

ABCC8 associated permanent neonatal diabetes mellitus typically due to GoF missense variants. Fathers are at increased risk of T2DM also.



Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes
For hyperinsulinaemic hypoglycaemia: glucose, insulin, free fatty acid levels
For neonatal diabetes: glucose tolerance test, hemoglobin A1C, insulin level, glucose level

Treatment: as per rx-genes
For hyperinsulinaemic hypoglycaemia: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

For neonatal diabetes: Insulin, glibenclamide, oral pancreatic enzymes
Genomic newborn screening: BabyScreen+ v0.1710 ABCC8 David Amor reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIM 256450 Hyperinsulinemic hypoglycemia, familial, 1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1710 TECTA David Amor reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 21, Deafness, autosomal dominant 8/12; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1710 LYST Zornitza Stark Tag immunological tag was added to gene: LYST.
Genomic newborn screening: BabyScreen+ v0.1710 LRTOMT Zornitza Stark Tag deafness tag was added to gene: LRTOMT.
Genomic newborn screening: BabyScreen+ v0.1710 LRP5 Zornitza Stark Tag treatable tag was added to gene: LRP5.
Tag skeletal tag was added to gene: LRP5.
Genomic newborn screening: BabyScreen+ v0.1710 LOXHD1 Zornitza Stark Tag deafness tag was added to gene: LOXHD1.
Genomic newborn screening: BabyScreen+ v0.1710 LMBRD1 Zornitza Stark Tag metabolic tag was added to gene: LMBRD1.
Genomic newborn screening: BabyScreen+ v0.1710 LIPA Zornitza Stark Tag metabolic tag was added to gene: LIPA.
Genomic newborn screening: BabyScreen+ v0.1710 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Tag immunological tag was added to gene: LIG4.
Genomic newborn screening: BabyScreen+ v0.1710 LHX4 Zornitza Stark Tag endocrine tag was added to gene: LHX4.
Genomic newborn screening: BabyScreen+ v0.1710 LHX3 Zornitza Stark Tag endocrine tag was added to gene: LHX3.
Genomic newborn screening: BabyScreen+ v0.1710 LHFPL5 Zornitza Stark Tag deafness tag was added to gene: LHFPL5.
Genomic newborn screening: BabyScreen+ v0.1710 LEPR Zornitza Stark Tag endocrine tag was added to gene: LEPR.
Genomic newborn screening: BabyScreen+ v0.1710 LDLR Zornitza Stark Tag for review was removed from gene: LDLR.
Tag treatable tag was added to gene: LDLR.
Tag metabolic tag was added to gene: LDLR.
Genomic newborn screening: BabyScreen+ v0.1710 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Genomic newborn screening: BabyScreen+ v0.1710 L1CAM Zornitza Stark Gene: l1cam has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1710 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus syndrome to Hydrocephalus due to aqueductal stenosis, MIM# 307000
Genomic newborn screening: BabyScreen+ v0.1709 L1CAM Zornitza Stark Classified gene: L1CAM as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1709 L1CAM Zornitza Stark Gene: l1cam has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1708 KCNJ11 Zornitza Stark changed review comment from: Association with hyperinsulinism is well established.

Onset is congenital.

Treatment: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

Association with neonatal diabetes is also well established.

Treatment: Insulin, glibenclamide, oral pancreatic enzymes.

Phenotypes are expected to be distinguishable clinically.; to: Association with hyperinsulinism is well established, mono-allelic variants.

Onset is congenital.

Treatment: Diazoxide, somatostatin analogs, nifedipine, glucagon, IGF-1, glucocorticoids, growth hormone, pancreatic resection, mTOR inhibitors, GLP-1 receptor antagonists, sirolimus

Association with neonatal diabetes is also well established, bi-allelic variants.

Treatment: Insulin, glibenclamide, oral pancreatic enzymes.

Phenotypes are expected to be distinguishable clinically.
Genomic newborn screening: BabyScreen+ v0.1708 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Genomic newborn screening: BabyScreen+ v0.1708 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1708 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, MIM#601820 to Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820
Genomic newborn screening: BabyScreen+ v0.1707 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1706 KCNJ11 Zornitza Stark Tag treatable tag was added to gene: KCNJ11.
Tag endocrine tag was added to gene: KCNJ11.
Genomic newborn screening: BabyScreen+ v0.1706 KCNJ11 Zornitza Stark reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal, 3 610582, Diabetes, permanent neonatal, with or without neurologic features 606176, Hyperinsulinemic hypoglycemia, familial, 2 601820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1706 KCNJ1 Zornitza Stark Tag treatable tag was added to gene: KCNJ1.
Tag renal tag was added to gene: KCNJ1.
Genomic newborn screening: BabyScreen+ v0.1706 IVD Zornitza Stark Tag metabolic tag was added to gene: IVD.
Genomic newborn screening: BabyScreen+ v0.1706 ILDR1 Zornitza Stark Tag deafness tag was added to gene: ILDR1.
Genomic newborn screening: BabyScreen+ v0.1706 HMGCL Zornitza Stark Tag metabolic tag was added to gene: HMGCL.
Genomic newborn screening: BabyScreen+ v0.1706 HLCS Zornitza Stark Tag metabolic tag was added to gene: HLCS.
Genomic newborn screening: BabyScreen+ v0.1706 HK1 Zornitza Stark Tag treatable tag was added to gene: HK1.
Tag endocrine tag was added to gene: HK1.
Genomic newborn screening: BabyScreen+ v0.1706 HGF Zornitza Stark Tag deafness tag was added to gene: HGF.
Genomic newborn screening: BabyScreen+ v0.1706 HADHB Zornitza Stark Tag metabolic tag was added to gene: HADHB.
Genomic newborn screening: BabyScreen+ v0.1706 HADHA Zornitza Stark Tag metabolic tag was added to gene: HADHA.
Genomic newborn screening: BabyScreen+ v0.1706 GRXCR1 Zornitza Stark Tag deafness tag was added to gene: GRXCR1.
Genomic newborn screening: BabyScreen+ v0.1706 GNS Zornitza Stark Marked gene: GNS as ready
Genomic newborn screening: BabyScreen+ v0.1706 GNS Zornitza Stark Gene: gns has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1706 GNS Zornitza Stark Phenotypes for gene: GNS were changed from Mucopolysaccharidosis IIId to Mucopolysaccharidosis type IIID, MIM# 252940
Genomic newborn screening: BabyScreen+ v0.1705 GNS Zornitza Stark Publications for gene: GNS were set to
Genomic newborn screening: BabyScreen+ v0.1704 GNS Zornitza Stark Classified gene: GNS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1704 GNS Zornitza Stark Gene: gns has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1703 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic newborn screening: BabyScreen+ v0.1702 GNAS Zornitza Stark Marked gene: GNAS as ready
Genomic newborn screening: BabyScreen+ v0.1702 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1702 GNAS Zornitza Stark Tag treatable tag was added to gene: GNAS.
Tag endocrine tag was added to gene: GNAS.
Genomic newborn screening: BabyScreen+ v0.1702 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic newborn screening: BabyScreen+ v0.1702 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Genomic newborn screening: BabyScreen+ v0.1702 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1702 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Genomic newborn screening: BabyScreen+ v0.1701 GLRA1 Zornitza Stark Tag treatable tag was added to gene: GLRA1.
Tag neurological tag was added to gene: GLRA1.
Genomic newborn screening: BabyScreen+ v0.1701 GLA Zornitza Stark Tag for review tag was added to gene: GLA.
Genomic newborn screening: BabyScreen+ v0.1701 GLA Zornitza Stark edited their review of gene: GLA: Changed rating: AMBER; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1701 GLA Zornitza Stark changed review comment from: For review: screen only for males or include both?; to: Assessed as 'moderate actionability' in paediatric patients by ClinGen.

In classic FD, the first symptoms, including chronic neuropathic pain and episodic severe pain crises, emerge during childhood (typically age 3-10 years). Heterozygous females typically have a later median age of onset than males (9-13 years versus 13-23 years). Rarely, females may be relatively asymptomatic and have a normal life span or may have symptoms as severe as males with the classic phenotype.

Cardiac and/or cerebrovascular disease is present in most males by middle age while ESRD usually develops during the third to fifth decade. Renal and cardiac failure represent major sources of morbidity, and account for the reduced lifespan among affected males (50-58 years) and females (70-75 years) compared to the normal population.

A systematic review of RCTs of ERT reported on nine studies of 351 FD patients; however, many of these studies reported only on the effect of ERT on levels of enzyme substrate. Data from 2 trials (n=39 males) found no statistically significant differences in plasma enzyme substrate and one trial (n=24 males) found no statistical differences in renal function between individuals treated with agalsidase alfa and placebo (up to 6-month follow-up). Similar results were seen for agalsidase beta. One trial of 26 male patients found a statistically significant difference in pain, favoring agalsidase alfa compared to placebo at 5-6 months after treatment. No trial reported on the effect of agalsidase alfa on mortality or cardiac/cerebrovascular disease. One trial of agalsidase beta (n=82 males and females) found no difference in mortality, renal function, or symptoms or complications of cardiac or cerebrovascular disease over 18 months. The long-term influence of ERT on risk of morbidity and mortality related to FD remains to be established.

Migalastat, an oral chaperone drug, is recommended as an option for treatment for some patients with FD who are over 16 years with an amenable genetic variant who would usually be offered ERT. For non-amenable genotypes, migalastat may result in a net loss of alpha-Gal A activity, potentially worsening the disease condition.

A systematic review evaluated 2 phase III RCTs that both included males and females. One RCT randomized patients to switch from ERT to migalastat (n = 36) or continue with ERT (n = 24) during an 18-month period with a 12-month extension in which all patients received migalastat. During the treatment period, the percentage of patients who had a renal, cardiac, or cerebrovascular event or died was 29% of patients on migalastat compared to 44% of patients on ERT. However, this difference was not statistically significant. A second RCT compared migalastat (n=34) with placebo (n=33) over a 6-month period, with an 18-month extension study. The primary outcome was change from baseline in interstitial capillary inclusions of the enzyme substrate globotriaosylceramide (GL-3), which was not significantly different between groups. Results from both trials indicate that migalastat does not have a significant beneficial effect on pain, health-related quality of life outcomes, or glomerular filtration rate (results were uncertain due to large confidence intervals, small sample sizes, and/or short follow-up time). Migalastat did not influence left ventricular ejection fraction but did improve left ventricular mass over 18 months.

There are a number of recommendations for surveillance and agents to avoid (amiodarone). There is no consensus as to when ERT should be started.
Genomic newborn screening: BabyScreen+ v0.1701 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Genomic newborn screening: BabyScreen+ v0.1701 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1701 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from Deafness and palmoplantar keratoderma; Deafness to Deafness, autosomal recessive 1A, MIM# 220290
Genomic newborn screening: BabyScreen+ v0.1700 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1699 GJB2 Zornitza Stark Tag deafness tag was added to gene: GJB2.
Genomic newborn screening: BabyScreen+ v0.1699 GJB2 Zornitza Stark reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 1A, MIM# 220290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1699 GIPC3 Zornitza Stark Tag deafness tag was added to gene: GIPC3.
Genomic newborn screening: BabyScreen+ v0.1699 GCM2 Zornitza Stark Tag treatable tag was added to gene: GCM2.
Tag endocrine tag was added to gene: GCM2.
Genomic newborn screening: BabyScreen+ v0.1699 GCK Zornitza Stark Tag treatable tag was added to gene: GCK.
Tag endocrine tag was added to gene: GCK.
Genomic newborn screening: BabyScreen+ v0.1699 GCDH Zornitza Stark Tag metabolic tag was added to gene: GCDH.
Genomic newborn screening: BabyScreen+ v0.1699 GBA Zornitza Stark Tag metabolic tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v0.1699 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Neonatal diabetes mellitus, MONDO:0016391, GATA4-related
Genomic newborn screening: BabyScreen+ v0.1698 GATA4 Zornitza Stark Tag treatable tag was added to gene: GATA4.
Tag endocrine tag was added to gene: GATA4.
Genomic newborn screening: BabyScreen+ v0.1698 GATA4 Zornitza Stark changed review comment from: Expect to be able to distinguish between the two phenotypes clinically in the newborn period.; to: Expect to be able to distinguish between the two phenotypes clinically in the newborn period.

Included here for association with neonatal diabetes.
Genomic newborn screening: BabyScreen+ v0.1698 GATA3 Zornitza Stark Tag endocrine tag was added to gene: GATA3.
Tag deafness tag was added to gene: GATA3.
Genomic newborn screening: BabyScreen+ v0.1698 GATA2 Zornitza Stark Tag haematological tag was added to gene: GATA2.
Tag deafness tag was added to gene: GATA2.
Genomic newborn screening: BabyScreen+ v0.1698 GAMT Zornitza Stark Tag metabolic tag was added to gene: GAMT.
Genomic newborn screening: BabyScreen+ v0.1698 GALT Zornitza Stark Tag metabolic tag was added to gene: GALT.
Genomic newborn screening: BabyScreen+ v0.1698 GALNS Zornitza Stark Tag metabolic tag was added to gene: GALNS.
Genomic newborn screening: BabyScreen+ v0.1698 GALK1 Zornitza Stark Tag metabolic tag was added to gene: GALK1.
Genomic newborn screening: BabyScreen+ v0.1698 GALE Zornitza Stark Tag metabolic tag was added to gene: GALE.
Genomic newborn screening: BabyScreen+ v0.1698 GALC Zornitza Stark Tag metabolic tag was added to gene: GALC.
Genomic newborn screening: BabyScreen+ v0.1698 GAA Zornitza Stark Tag metabolic tag was added to gene: GAA.
Genomic newborn screening: BabyScreen+ v0.1698 G6PD Zornitza Stark Tag treatable tag was added to gene: G6PD.
Tag haematological tag was added to gene: G6PD.
Genomic newborn screening: BabyScreen+ v0.1698 G6PC3 Zornitza Stark Tag immunological tag was added to gene: G6PC3.
Genomic newborn screening: BabyScreen+ v0.1698 G6PC Zornitza Stark Tag metabolic tag was added to gene: G6PC.
Genomic newborn screening: BabyScreen+ v0.1698 FUCA1 Zornitza Stark Tag metabolic tag was added to gene: FUCA1.
Genomic newborn screening: BabyScreen+ v0.1698 FOXP3 Zornitza Stark Tag immunological tag was added to gene: FOXP3.
Genomic newborn screening: BabyScreen+ v0.1698 FOXA2 Zornitza Stark Tag treatable tag was added to gene: FOXA2.
Tag endocrine tag was added to gene: FOXA2.
Genomic newborn screening: BabyScreen+ v0.1698 FLAD1 Zornitza Stark Tag metabolic tag was added to gene: FLAD1.
Genomic newborn screening: BabyScreen+ v0.1698 FH Zornitza Stark Tag metabolic tag was added to gene: FH.
Genomic newborn screening: BabyScreen+ v0.1698 FGG Zornitza Stark Tag haematological tag was added to gene: FGG.
Genomic newborn screening: BabyScreen+ v0.1698 FGFR3 Zornitza Stark Tag skeletal tag was added to gene: FGFR3.
Genomic newborn screening: BabyScreen+ v0.1698 FGF3 Zornitza Stark Tag deafness tag was added to gene: FGF3.
Genomic newborn screening: BabyScreen+ v0.1698 FGB Zornitza Stark Tag treatable tag was added to gene: FGB.
Tag haematological tag was added to gene: FGB.
Genomic newborn screening: BabyScreen+ v0.1698 FGA Zornitza Stark Tag treatable tag was added to gene: FGA.
Tag haematological tag was added to gene: FGA.
Genomic newborn screening: BabyScreen+ v0.1698 FERMT3 Zornitza Stark Tag immunological tag was added to gene: FERMT3.
Genomic newborn screening: BabyScreen+ v0.1698 FBP1 Zornitza Stark Tag treatable tag was added to gene: FBP1.
Tag metabolic tag was added to gene: FBP1.
Genomic newborn screening: BabyScreen+ v0.1698 FANCI Zornitza Stark Tag haematological tag was added to gene: FANCI.
Genomic newborn screening: BabyScreen+ v0.1698 FANCG Zornitza Stark Tag haematological tag was added to gene: FANCG.
Genomic newborn screening: BabyScreen+ v0.1698 FANCD2 Zornitza Stark Tag treatable tag was added to gene: FANCD2.
Tag haematological tag was added to gene: FANCD2.
Genomic newborn screening: BabyScreen+ v0.1698 FANCC Zornitza Stark Tag treatable tag was added to gene: FANCC.
Tag haematological tag was added to gene: FANCC.
Genomic newborn screening: BabyScreen+ v0.1698 FANCB Zornitza Stark Tag haematological tag was added to gene: FANCB.
Genomic newborn screening: BabyScreen+ v0.1698 FANCA Zornitza Stark Tag treatable tag was added to gene: FANCA.
Tag haematological tag was added to gene: FANCA.
Genomic newborn screening: BabyScreen+ v0.1698 FAH Zornitza Stark Tag metabolic tag was added to gene: FAH.
Genomic newborn screening: BabyScreen+ v0.1698 F9 Zornitza Stark Marked gene: F9 as ready
Genomic newborn screening: BabyScreen+ v0.1698 F9 Zornitza Stark Gene: f9 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1698 F9 Zornitza Stark Tag treatable tag was added to gene: F9.
Tag haematological tag was added to gene: F9.
Genomic newborn screening: BabyScreen+ v0.1698 F9 Zornitza Stark reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1698 F8 Zornitza Stark Marked gene: F8 as ready
Genomic newborn screening: BabyScreen+ v0.1698 F8 Zornitza Stark Gene: f8 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1698 F8 Zornitza Stark Tag for review tag was added to gene: F8.
Tag treatable tag was added to gene: F8.
Tag haematological tag was added to gene: F8.
Genomic newborn screening: BabyScreen+ v0.1698 F8 Zornitza Stark reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia A, MIM# 306700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1698 F7 Zornitza Stark Marked gene: F7 as ready
Genomic newborn screening: BabyScreen+ v0.1698 F7 Zornitza Stark Gene: f7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1698 F7 Zornitza Stark Tag for review tag was added to gene: F7.
Tag treatable tag was added to gene: F7.
Tag haematological tag was added to gene: F7.
Genomic newborn screening: BabyScreen+ v0.1698 F7 Zornitza Stark edited their review of gene: F7: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1698 F7 Zornitza Stark reviewed gene: F7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor VII deficiency, MIM# 227500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1698 FGF23 Zornitza Stark Marked gene: FGF23 as ready
Genomic newborn screening: BabyScreen+ v0.1698 FGF23 Zornitza Stark Gene: fgf23 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1698 FGF23 Zornitza Stark Classified gene: FGF23 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v0.1698 FGF23 Zornitza Stark Gene: fgf23 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1697 FGF23 Zornitza Stark Tag treatable tag was added to gene: FGF23.
Tag endocrine tag was added to gene: FGF23.
Genomic newborn screening: BabyScreen+ v0.1697 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to gNBS. Sources: Expert list
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Review for gene: FGF23 was set to GREEN
Added comment: Mono-allelic GoF variants are associated with hypophosphataemic rickets.

Onset in some is in infancy (others adolescence).

Treatment: phosphate supplementation and calcitriol

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase levels, urine calcium level

Bi-allelic LoF variants are associated with tumoral calcinosis.

Age of onset and severity are variable, but include early childhood.

Treatment: dietary restriction, antacids, phosphate binders, acetazolamide, hemodialysis

Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1696 F5 Zornitza Stark Marked gene: F5 as ready
Genomic newborn screening: BabyScreen+ v0.1696 F5 Zornitza Stark Gene: f5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1696 F5 Zornitza Stark Phenotypes for gene: F5 were changed from Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 to Factor V deficiency, MIM# 227400 MONDO:0009210; Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055
Genomic newborn screening: BabyScreen+ v0.1695 F5 Zornitza Stark Classified gene: F5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1695 F5 Zornitza Stark Gene: f5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1694 F5 Zornitza Stark reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency, MIM# 227400 MONDO:0009210, Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560, {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1694 F2 Zornitza Stark Marked gene: F2 as ready
Genomic newborn screening: BabyScreen+ v0.1694 F2 Zornitza Stark Gene: f2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1694 F2 Zornitza Stark Phenotypes for gene: F2 were changed from Prothrombin deficiency, MIM#613679 to Dysprothrombinemia MIM#613679; Hypoprothrombinemia MIM#613679; Thrombophilia due to thrombin defect MIM#188050
Genomic newborn screening: BabyScreen+ v0.1693 F2 Zornitza Stark Mode of inheritance for gene: F2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1692 F2 Zornitza Stark Classified gene: F2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1692 F2 Zornitza Stark Gene: f2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1691 F2 Zornitza Stark reviewed gene: F2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysprothrombinemia MIM#613679, Hypoprothrombinemia MIM#613679, Thrombophilia due to thrombin defect MIM#188050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1691 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Genomic newborn screening: BabyScreen+ v0.1691 F13A1 Zornitza Stark Gene: f13a1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1691 F13A1 Zornitza Stark Tag treatable tag was added to gene: F13A1.
Tag haematological tag was added to gene: F13A1.
Genomic newborn screening: BabyScreen+ v0.1691 F13A1 Zornitza Stark reviewed gene: F13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XIIIA deficiency, MIM# 613225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1691 F11 Zornitza Stark Marked gene: F11 as ready
Genomic newborn screening: BabyScreen+ v0.1691 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1691 F11 Zornitza Stark Phenotypes for gene: F11 were changed from Factor XI deficiency to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Genomic newborn screening: BabyScreen+ v0.1690 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1689 F11 Zornitza Stark Classified gene: F11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1689 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1688 F11 Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive, MIM#612416; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1688 ETHE1 Zornitza Stark Tag metabolic tag was added to gene: ETHE1.
Genomic newborn screening: BabyScreen+ v0.1688 ETFDH Zornitza Stark Tag metabolic tag was added to gene: ETFDH.
Genomic newborn screening: BabyScreen+ v0.1688 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Tag metabolic tag was added to gene: ETFB.
Genomic newborn screening: BabyScreen+ v0.1688 ETFA Zornitza Stark Tag metabolic tag was added to gene: ETFA.
Genomic newborn screening: BabyScreen+ v0.1688 ESRRB Zornitza Stark Tag deafness tag was added to gene: ESRRB.
Genomic newborn screening: BabyScreen+ v0.1688 ESPN Zornitza Stark Tag deafness tag was added to gene: ESPN.
Genomic newborn screening: BabyScreen+ v0.1688 EPS8 Zornitza Stark Tag deafness tag was added to gene: EPS8.
Genomic newborn screening: BabyScreen+ v0.1688 ENPP1 Zornitza Stark Tag endocrine tag was added to gene: ENPP1.
Tag vascular tag was added to gene: ENPP1.
Genomic newborn screening: BabyScreen+ v0.1688 ENG Zornitza Stark Tag treatable tag was added to gene: ENG.
Tag vascular tag was added to gene: ENG.
Genomic newborn screening: BabyScreen+ v0.1688 ELANE Zornitza Stark Tag treatable tag was added to gene: ELANE.
Tag immunological tag was added to gene: ELANE.
Genomic newborn screening: BabyScreen+ v0.1688 EIF2AK3 Zornitza Stark Tag treatable tag was added to gene: EIF2AK3.
Tag endocrine tag was added to gene: EIF2AK3.
Genomic newborn screening: BabyScreen+ v0.1688 EFL1 Zornitza Stark Tag gastrointestinal tag was added to gene: EFL1.
Genomic newborn screening: BabyScreen+ v0.1688 EDNRB Zornitza Stark Tag deafness tag was added to gene: EDNRB.
Genomic newborn screening: BabyScreen+ v0.1688 EDN3 Zornitza Stark Tag deafness tag was added to gene: EDN3.
Genomic newborn screening: BabyScreen+ v0.1688 DUOXA2 Zornitza Stark Tag endocrine tag was added to gene: DUOXA2.
Genomic newborn screening: BabyScreen+ v0.1688 DUOX2 Zornitza Stark Tag endocrine tag was added to gene: DUOX2.
Genomic newborn screening: BabyScreen+ v0.1688 DPAGT1 Zornitza Stark Tag treatable tag was added to gene: DPAGT1.
Tag neurological tag was added to gene: DPAGT1.
Genomic newborn screening: BabyScreen+ v0.1688 DOK7 Zornitza Stark Tag neurological tag was added to gene: DOK7.
Genomic newborn screening: BabyScreen+ v0.1688 DOCK8 Zornitza Stark Tag immunological tag was added to gene: DOCK8.
Genomic newborn screening: BabyScreen+ v0.1688 DNMT3B Zornitza Stark Tag immunological tag was added to gene: DNMT3B.
Genomic newborn screening: BabyScreen+ v0.1688 DNAJB6 Zornitza Stark Classified gene: DNAJB6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1688 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1687 DNAJB6 Zornitza Stark edited their review of gene: DNAJB6: Changed rating: RED
Genomic newborn screening: BabyScreen+ v0.1687 DMP1 Zornitza Stark Tag treatable tag was added to gene: DMP1.
Tag skeletal tag was added to gene: DMP1.
Genomic newborn screening: BabyScreen+ v0.1687 DHCR7 Zornitza Stark Tag metabolic tag was added to gene: DHCR7.
Genomic newborn screening: BabyScreen+ v0.1687 DGAT1 Zornitza Stark Tag gastrointestinal tag was added to gene: DGAT1.
Genomic newborn screening: BabyScreen+ v0.1687 DFNB59 Zornitza Stark Tag deafness tag was added to gene: DFNB59.
Genomic newborn screening: BabyScreen+ v0.1687 DDC Zornitza Stark Tag metabolic tag was added to gene: DDC.
Genomic newborn screening: BabyScreen+ v0.1687 DCLRE1C Zornitza Stark Tag immunological tag was added to gene: DCLRE1C.
Genomic newborn screening: BabyScreen+ v0.1687 DBT Zornitza Stark Tag metabolic tag was added to gene: DBT.
Genomic newborn screening: BabyScreen+ v0.1687 CYP27B1 Zornitza Stark Tag endocrine tag was added to gene: CYP27B1.
Genomic newborn screening: BabyScreen+ v0.1687 CYP17A1 Zornitza Stark Tag endocrine tag was added to gene: CYP17A1.
Genomic newborn screening: BabyScreen+ v0.1687 CYP11B2 Zornitza Stark Tag endocrine tag was added to gene: CYP11B2.
Genomic newborn screening: BabyScreen+ v0.1687 CYP11B1 Zornitza Stark Tag endocrine tag was added to gene: CYP11B1.
Genomic newborn screening: BabyScreen+ v0.1687 CYP11A1 Zornitza Stark Tag endocrine tag was added to gene: CYP11A1.
Genomic newborn screening: BabyScreen+ v0.1687 CYBB Zornitza Stark Tag immunological tag was added to gene: CYBB.
Genomic newborn screening: BabyScreen+ v0.1687 CYBA Zornitza Stark Tag immunological tag was added to gene: CYBA.
Genomic newborn screening: BabyScreen+ v0.1687 CXCR4 Zornitza Stark Tag immunological tag was added to gene: CXCR4.
Genomic newborn screening: BabyScreen+ v0.1687 CUBN Zornitza Stark Tag haematological tag was added to gene: CUBN.
Genomic newborn screening: BabyScreen+ v0.1687 CTPS1 Zornitza Stark Tag immunological tag was added to gene: CTPS1.
Genomic newborn screening: BabyScreen+ v0.1687 CTNS Zornitza Stark Tag renal tag was added to gene: CTNS.
Genomic newborn screening: BabyScreen+ v0.1687 CSF3R Zornitza Stark Tag immunological tag was added to gene: CSF3R.
Genomic newborn screening: BabyScreen+ v0.1687 CRTAP Zornitza Stark Tag treatable tag was added to gene: CRTAP.
Tag skeletal tag was added to gene: CRTAP.
Genomic newborn screening: BabyScreen+ v0.1687 CPT2 Zornitza Stark Tag metabolic tag was added to gene: CPT2.
Genomic newborn screening: BabyScreen+ v0.1687 CPT1A Zornitza Stark Tag metabolic tag was added to gene: CPT1A.
Genomic newborn screening: BabyScreen+ v0.1687 CPS1 Zornitza Stark Tag metabolic tag was added to gene: CPS1.
Genomic newborn screening: BabyScreen+ v0.1687 COQ8A Zornitza Stark Tag metabolic tag was added to gene: COQ8A.
Genomic newborn screening: BabyScreen+ v0.1687 COQ4 Zornitza Stark Tag metabolic tag was added to gene: COQ4.
Genomic newborn screening: BabyScreen+ v0.1687 COLQ Zornitza Stark Tag neurological tag was added to gene: COLQ.
Genomic newborn screening: BabyScreen+ v0.1687 CASR Zornitza Stark Marked gene: CASR as ready
Genomic newborn screening: BabyScreen+ v0.1687 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1687 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal, MIM# 239200 to Hypocalcemia, autosomal dominant MIM#601198; Hyperparathyroidism, neonatal MIM#239200
Genomic newborn screening: BabyScreen+ v0.1686 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark changed review comment from: AD hypoCa: Established gene-disease association.

Congenital onset.

Treatment: Thiazide diuretics, calcium, calcitriol.

Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.; to: AD hypoCa: Established gene-disease association.

Congenital onset.

Treatment: Thiazide diuretics, calcium, calcitriol.

Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.

AD/AR hyperparathyroidism: established gene-disease association.

Congenital onset.

Treatment: bisphosphonate, parathyroidectomy, cinacalcet

Non-genetic confirmatory testing: Ca, PTH.
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark changed review comment from: Established gene-disease association.

Congenital onset.

Treatment: Thiazide diuretics, calcium, calcitriol.

Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.; to: AD hypoCa: Established gene-disease association.

Congenital onset.

Treatment: Thiazide diuretics, calcium, calcitriol.

Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark edited their review of gene: CASR: Changed phenotypes: Hypocalcemia, autosomal dominant MIM#601198, Hyperparathyroidism, neonatal MIM#239200
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark edited their review of gene: CASR: Changed phenotypes: Hypocalciuric hypercalcemia, type I, MIM# 145980, Hyperparathyroidism, neonatal MIM#239200
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark edited their review of gene: CASR: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1685 CASR Zornitza Stark Mode of inheritance for gene: CASR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1684 CASR Zornitza Stark changed review comment from: Treatment: Thiazide diuretics, calcium, calcitriol; to: Established gene-disease association.

Congenital onset.

Treatment: Thiazide diuretics, calcium, calcitriol.

Non-genetic confirmatory testing: parathyroid hormone level, urinary calcium excretion, serum calcium.
Genomic newborn screening: BabyScreen+ v0.1684 CASR Zornitza Stark edited their review of gene: CASR: Changed phenotypes: Hypocalciuric hypercalcemia, type I, MIM# 145980
Genomic newborn screening: BabyScreen+ v0.1684 CASR Zornitza Stark reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1684 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Genomic newborn screening: BabyScreen+ v0.1684 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1684 COL4A3 Zornitza Stark Phenotypes for gene: COL4A3 were changed from Alport syndrome to Alport syndrome 2, autosomal recessive, MIM# 203780
Genomic newborn screening: BabyScreen+ v0.1683 COL4A3 Zornitza Stark Mode of inheritance for gene: COL4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1682 COL4A3 Zornitza Stark Tag treatable tag was added to gene: COL4A3.
Tag renal tag was added to gene: COL4A3.
Genomic newborn screening: BabyScreen+ v0.1682 COL4A3 Zornitza Stark reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 2, autosomal recessive, MIM# 203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1682 COL4A4 Zornitza Stark Marked gene: COL4A4 as ready
Genomic newborn screening: BabyScreen+ v0.1682 COL4A4 Zornitza Stark Gene: col4a4 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1682 COL4A4 Zornitza Stark Phenotypes for gene: COL4A4 were changed from Alport syndrome to Alport syndrome 2, autosomal recessive MIM#203780
Genomic newborn screening: BabyScreen+ v0.1681 COL4A4 Zornitza Stark Tag treatable tag was added to gene: COL4A4.
Tag renal tag was added to gene: COL4A4.
Genomic newborn screening: BabyScreen+ v0.1681 COL4A4 Zornitza Stark changed review comment from: Assessed as 'strongly actionable' in paediatric patients by ClinGen.

Treatment: ACE inhibitors alter long-term outcomes.

Individuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.; to: Well established gene-disease association.

Assessed as 'strongly actionable' in paediatric patients by ClinGen.

Treatment: ACE inhibitors alter long-term outcomes.

Individuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.
Genomic newborn screening: BabyScreen+ v0.1681 COL4A4 Zornitza Stark changed review comment from: Assessed as 'strongly actionable' in paediatric patients by ClinGen.

Treatment: ACE inhibitors alter long-term outcomes.

Males with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.; to: Assessed as 'strongly actionable' in paediatric patients by ClinGen.

Treatment: ACE inhibitors alter long-term outcomes.

Individuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.
Genomic newborn screening: BabyScreen+ v0.1681 COL4A4 Zornitza Stark edited their review of gene: COL4A4: Changed rating: GREEN; Changed phenotypes: Alport syndrome 2, autosomal recessive MIM#203780; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1681 COL4A4 Zornitza Stark commented on gene: COL4A4
Genomic newborn screening: BabyScreen+ v0.1681 COL4A5 Zornitza Stark changed review comment from: Well established gene-disease association.

Natural history: In males, truncating variants in COL4A5 are associated with an earlier age at onset of kidney failure; risk of ESRD before age 30 is estimated as 90% for large rearrangements and pathogenic nonsense and frameshift variants, 70% for splice variants, and 50% for missense variants. In males, progressive SNHL is usually present by late childhood or early adolescence, and interior lenticous typically becomes apparent in late adolescence or early adulthood. In females, renal disease ranges from asymptomatic disease to lifelong microhematuria to renal failure at a young age. In females, progressive SNHL is typically later in life, lenticonus may not occur, and central retinopathy is rare.

Assessed as 'strongly actionable' in paediatric patients by ClinGen.

Treatment: ACE inhibitors alter long-term outcomes.

Males with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.

For review: screen both males and females?; to: Well established gene-disease association.

Natural history: In males, truncating variants in COL4A5 are associated with an earlier age at onset of kidney failure; risk of ESRD before age 30 is estimated as 90% for large rearrangements and pathogenic nonsense and frameshift variants, 70% for splice variants, and 50% for missense variants. In males, progressive SNHL is usually present by late childhood or early adolescence, and interior lenticous typically becomes apparent in late adolescence or early adulthood. In females, renal disease ranges from asymptomatic disease to lifelong microhematuria to renal failure at a young age. In females, progressive SNHL is typically later in life, lenticonus may not occur, and central retinopathy is rare.

Assessed as 'strongly actionable' in paediatric patients by ClinGen.

Treatment: ACE inhibitors alter long-term outcomes.

Males with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.
Genomic newborn screening: BabyScreen+ v0.1681 COL4A5 Zornitza Stark Tag renal tag was added to gene: COL4A5.
Genomic newborn screening: BabyScreen+ v0.1681 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Genomic newborn screening: BabyScreen+ v0.1681 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1681 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Genomic newborn screening: BabyScreen+ v0.1680 COL3A1 Zornitza Stark Classified gene: COL3A1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1680 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1679 COL3A1 Zornitza Stark Tag for review tag was added to gene: COL3A1.
Tag cardiac tag was added to gene: COL3A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL3A1 Zornitza Stark reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1679 COL2A1 Zornitza Stark Tag for review was removed from gene: COL2A1.
Tag treatable tag was added to gene: COL2A1.
Tag ophthalmological tag was added to gene: COL2A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL1A2 Zornitza Stark Tag treatable tag was added to gene: COL1A2.
Tag skeletal tag was added to gene: COL1A2.
Genomic newborn screening: BabyScreen+ v0.1679 COL1A1 Zornitza Stark Tag skeletal tag was added to gene: COL1A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL13A1 Zornitza Stark Tag neurological tag was added to gene: COL13A1.
Genomic newborn screening: BabyScreen+ v0.1679 COL11A2 Zornitza Stark Tag deafness tag was added to gene: COL11A2.
Genomic newborn screening: BabyScreen+ v0.1679 COL11A1 Zornitza Stark Tag treatable tag was added to gene: COL11A1.
Genomic newborn screening: BabyScreen+ v0.1679 COCH Zornitza Stark Tag deafness tag was added to gene: COCH.
Genomic newborn screening: BabyScreen+ v0.1679 CLPP Zornitza Stark Tag treatable tag was added to gene: CLPP.
Tag metabolic tag was added to gene: CLPP.
Genomic newborn screening: BabyScreen+ v0.1679 CLDN14 Zornitza Stark Tag deafness tag was added to gene: CLDN14.
Genomic newborn screening: BabyScreen+ v0.1679 CLCN7 Zornitza Stark Tag skeletal tag was added to gene: CLCN7.
Genomic newborn screening: BabyScreen+ v0.1679 CIB2 Zornitza Stark Tag deafness tag was added to gene: CIB2.
Genomic newborn screening: BabyScreen+ v0.1679 CHRNE Zornitza Stark Tag treatable tag was added to gene: CHRNE.
Tag neurological tag was added to gene: CHRNE.
Genomic newborn screening: BabyScreen+ v0.1679 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Tag neurological tag was added to gene: CHRND.
Genomic newborn screening: BabyScreen+ v0.1679 CHRNA1 Zornitza Stark Tag neurological tag was added to gene: CHRNA1.
Genomic newborn screening: BabyScreen+ v0.1679 CHAT Zornitza Stark Tag neurological tag was added to gene: CHAT.
Genomic newborn screening: BabyScreen+ v0.1679 CFTR Zornitza Stark Tag respiratory tag was added to gene: CFTR.
Genomic newborn screening: BabyScreen+ v0.1679 CFP Zornitza Stark Tag treatable tag was added to gene: CFP.
Tag immunological tag was added to gene: CFP.
Genomic newborn screening: BabyScreen+ v0.1679 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Genomic newborn screening: BabyScreen+ v0.1679 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1679 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, MIM#130650 to IMAGe syndrome, MIM# 614732
Genomic newborn screening: BabyScreen+ v0.1678 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic newborn screening: BabyScreen+ v0.1677 CDKN1C Zornitza Stark Tag treatable tag was added to gene: CDKN1C.
Tag endocrine tag was added to gene: CDKN1C.
Genomic newborn screening: BabyScreen+ v0.1677 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: IMAGe syndrome, MIM# 614732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic newborn screening: BabyScreen+ v0.1677 CDH23 Zornitza Stark Tag deafness tag was added to gene: CDH23.
Genomic newborn screening: BabyScreen+ v0.1677 CDC14A Zornitza Stark Tag deafness tag was added to gene: CDC14A.
Genomic newborn screening: BabyScreen+ v0.1677 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Genomic newborn screening: BabyScreen+ v0.1677 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1677 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type I to Dyserythropoietic anaemia, congenital, type Ia, MIM#224120
Genomic newborn screening: BabyScreen+ v0.1676 CDAN1 Zornitza Stark Classified gene: CDAN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1676 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1675 CDAN1 Zornitza Stark reviewed gene: CDAN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyserythropoietic anaemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1675 CDAN1 Zornitza Stark Tag treatable tag was added to gene: CDAN1.
Tag haematological tag was added to gene: CDAN1.
Genomic newborn screening: BabyScreen+ v0.1675 CD79B Zornitza Stark Tag immunological tag was added to gene: CD79B.
Genomic newborn screening: BabyScreen+ v0.1675 CD79A Zornitza Stark Tag immunological tag was added to gene: CD79A.
Genomic newborn screening: BabyScreen+ v0.1675 CD40LG Zornitza Stark Tag immunological tag was added to gene: CD40LG.
Genomic newborn screening: BabyScreen+ v0.1675 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
Tag immunological tag was added to gene: CD3E.
Genomic newborn screening: BabyScreen+ v0.1675 CD3D Zornitza Stark Tag immunological tag was added to gene: CD3D.
Genomic newborn screening: BabyScreen+ v0.1675 CAVIN1 Zornitza Stark Tag endocrine tag was added to gene: CAVIN1.
Genomic newborn screening: BabyScreen+ v0.1675 CASR Zornitza Stark Tag treatable tag was added to gene: CASR.
Tag endocrine tag was added to gene: CASR.
Genomic newborn screening: BabyScreen+ v0.1675 CARD11 Zornitza Stark Tag treatable tag was added to gene: CARD11.
Tag immunological tag was added to gene: CARD11.
Genomic newborn screening: BabyScreen+ v0.1675 CABP2 Zornitza Stark Tag deafness tag was added to gene: CABP2.
Genomic newborn screening: BabyScreen+ v0.1675 CA5A Zornitza Stark Tag metabolic tag was added to gene: CA5A.
Genomic newborn screening: BabyScreen+ v0.1675 CA2 Zornitza Stark Tag skeletal tag was added to gene: CA2.
Genomic newborn screening: BabyScreen+ v0.1675 C9 Zornitza Stark Tag immunological tag was added to gene: C9.
Genomic newborn screening: BabyScreen+ v0.1675 C8B Zornitza Stark Tag treatable tag was added to gene: C8B.
Tag immunological tag was added to gene: C8B.
Genomic newborn screening: BabyScreen+ v0.1675 C7 Zornitza Stark Tag immunological tag was added to gene: C7.
Genomic newborn screening: BabyScreen+ v0.1675 C6 Zornitza Stark Tag immunological tag was added to gene: C6.
Genomic newborn screening: BabyScreen+ v0.1675 C5 Zornitza Stark Tag immunological tag was added to gene: C5.
Genomic newborn screening: BabyScreen+ v0.1675 GCH1 John Christodoulou reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32456656, PMID: 20301681; Phenotypes: dystonia, truncal hypotonia, peripheral hypertonia, seizures, ID, fever; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1675 UROS John Christodoulou reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30685241; Phenotypes: hydros, photosensitivity, erythrodontia, corneal scarring, haemolytic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1675 TRMU John Christodoulou reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33485800, PMID: 33365252; Phenotypes: liver failure, Leigh syndrome, cardiomyopathy' myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1675 TPP1 John Christodoulou reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30783219, PMID: 32280231; Phenotypes: neruodegeneration, seizures, loss of vision, loss of language; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1675 BTK Zornitza Stark Tag immunological tag was added to gene: BTK.
Genomic newborn screening: BabyScreen+ v0.1675 BTD Zornitza Stark Tag metabolic tag was added to gene: BTD.
Genomic newborn screening: BabyScreen+ v0.1675 BSND Zornitza Stark Tag renal tag was added to gene: BSND.
Genomic newborn screening: BabyScreen+ v0.1675 BSCL2 Zornitza Stark Tag endocrine tag was added to gene: BSCL2.
Genomic newborn screening: BabyScreen+ v0.1675 BRIP1 Zornitza Stark Tag haematological tag was added to gene: BRIP1.
Genomic newborn screening: BabyScreen+ v0.1675 BLNK Zornitza Stark Tag immunological tag was added to gene: BLNK.
Genomic newborn screening: BabyScreen+ v0.1675 BCKDK Zornitza Stark Tag metabolic tag was added to gene: BCKDK.
Genomic newborn screening: BabyScreen+ v0.1675 BCKDHB Zornitza Stark Tag metabolic tag was added to gene: BCKDHB.
Genomic newborn screening: BabyScreen+ v0.1675 BCKDHA Zornitza Stark Tag metabolic tag was added to gene: BCKDHA.
Genomic newborn screening: BabyScreen+ v0.1675 TFG Zornitza Stark Marked gene: TFG as ready
Genomic newborn screening: BabyScreen+ v0.1675 TFG Zornitza Stark Gene: tfg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1675 TFG Zornitza Stark Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Spastic paraplegia 57, autosomal recessive, MIM# 615658
Genomic newborn screening: BabyScreen+ v0.1674 TFG Zornitza Stark Mode of inheritance for gene: TFG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1673 TFG Zornitza Stark Classified gene: TFG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1673 TFG Zornitza Stark Gene: tfg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1672 TFG Zornitza Stark reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484, Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1672 TG Zornitza Stark Marked gene: TG as ready
Genomic newborn screening: BabyScreen+ v0.1672 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1672 TG Zornitza Stark Phenotypes for gene: TG were changed from Thyroid dyshormonogenesis 3 to Thyroid dyshormonogenesis 3, MIM# 274700
Genomic newborn screening: BabyScreen+ v0.1671 TG Zornitza Stark Publications for gene: TG were set to
Genomic newborn screening: BabyScreen+ v0.1670 TG Zornitza Stark Tag treatable tag was added to gene: TG.
Tag endocrine tag was added to gene: TG.
Genomic newborn screening: BabyScreen+ v0.1670 TG Zornitza Stark reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1670 TGM5 Zornitza Stark Marked gene: TGM5 as ready
Genomic newborn screening: BabyScreen+ v0.1670 TGM5 Zornitza Stark Gene: tgm5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1670 TGM5 Zornitza Stark Phenotypes for gene: TGM5 were changed from Peeling skin syndrome, acral type to Peeling skin syndrome 2, MIM# 609796
Genomic newborn screening: BabyScreen+ v0.1669 TGM5 Zornitza Stark Classified gene: TGM5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1669 TGM5 Zornitza Stark Gene: tgm5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1668 TGM5 Zornitza Stark reviewed gene: TGM5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 2, MIM# 609796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1668 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Genomic newborn screening: BabyScreen+ v0.1668 TGM1 Zornitza Stark Gene: tgm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1668 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Genomic newborn screening: BabyScreen+ v0.1667 TGM1 Zornitza Stark Classified gene: TGM1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1667 TGM1 Zornitza Stark Gene: tgm1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1666 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 1 (MIM#242300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1666 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Genomic newborn screening: BabyScreen+ v0.1666 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1666 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 2, MIM# 610168
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR2 Zornitza Stark Tag cardiac tag was added to gene: TGFBR2.
Tag treatable tag was added to gene: TGFBR2.
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR2 Zornitza Stark edited their review of gene: TGFBR2: Changed phenotypes: Loeys-Dietz syndrome 2, MIM# 610168
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1665 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome 1, MIM# 609192
Genomic newborn screening: BabyScreen+ v0.1664 TGFBR1 Zornitza Stark Tag cardiac tag was added to gene: TGFBR1.
Tag treatable tag was added to gene: TGFBR1.
Genomic newborn screening: BabyScreen+ v0.1664 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1664 TH Zornitza Stark Marked gene: TH as ready
Genomic newborn screening: BabyScreen+ v0.1664 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1664 TH Zornitza Stark Publications for gene: TH were set to
Genomic newborn screening: BabyScreen+ v0.1663 TH Zornitza Stark Tag treatable tag was added to gene: TH.
Tag endocrine tag was added to gene: TH.
Genomic newborn screening: BabyScreen+ v0.1663 THRA Zornitza Stark Marked gene: THRA as ready
Genomic newborn screening: BabyScreen+ v0.1663 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1663 THRA Zornitza Stark Phenotypes for gene: THRA were changed from Hypothyroidism, congenital, nongoitrous, 6 to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Genomic newborn screening: BabyScreen+ v0.1662 THRA Zornitza Stark Publications for gene: THRA were set to
Genomic newborn screening: BabyScreen+ v0.1661 THRA Zornitza Stark Tag treatable tag was added to gene: THRA.
Tag endocrine tag was added to gene: THRA.
Genomic newborn screening: BabyScreen+ v0.1661 THRA Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1661 THRB Zornitza Stark Marked gene: THRB as ready
Genomic newborn screening: BabyScreen+ v0.1661 THRB Zornitza Stark Gene: thrb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1661 THRB Zornitza Stark Phenotypes for gene: THRB were changed from Thyroid hormone resistance to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650
Genomic newborn screening: BabyScreen+ v0.1660 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1659 THRB Zornitza Stark Classified gene: THRB as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1659 THRB Zornitza Stark Gene: thrb has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1658 THRB Zornitza Stark reviewed gene: THRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid hormone resistance, MIM# 188570, Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, selective pituitary, MIM# 145650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1658 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Genomic newborn screening: BabyScreen+ v0.1658 TIMM8A Zornitza Stark Gene: timm8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1658 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from Mohr-Tranebjaerg syndrome to Mohr-Tranebjaerg syndrome MIM#304700
Genomic newborn screening: BabyScreen+ v0.1657 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Genomic newborn screening: BabyScreen+ v0.1656 TIMM8A Zornitza Stark Classified gene: TIMM8A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1656 TIMM8A Zornitza Stark Gene: timm8a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1655 TK2 Zornitza Stark Publications for gene: TK2 were set to
Genomic newborn screening: BabyScreen+ v0.1654 TK2 Zornitza Stark Marked gene: TK2 as ready
Genomic newborn screening: BabyScreen+ v0.1654 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1654 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Genomic newborn screening: BabyScreen+ v0.1653 TK2 Zornitza Stark Tag treatable tag was added to gene: TK2.
Tag metabolic tag was added to gene: TK2.
Genomic newborn screening: BabyScreen+ v0.1653 TMC1 Zornitza Stark Marked gene: TMC1 as ready
Genomic newborn screening: BabyScreen+ v0.1653 TMC1 Zornitza Stark Gene: tmc1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1653 TMC1 Zornitza Stark Tag deafness tag was added to gene: TMC1.
Genomic newborn screening: BabyScreen+ v0.1653 TMC1 Zornitza Stark Phenotypes for gene: TMC1 were changed from Deafness to Deafness, autosomal recessive 7 MIM#600974
Genomic newborn screening: BabyScreen+ v0.1652 TMC1 Zornitza Stark Publications for gene: TMC1 were set to
Genomic newborn screening: BabyScreen+ v0.1651 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Genomic newborn screening: BabyScreen+ v0.1651 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1651 TMEM43 Zornitza Stark Phenotypes for gene: TMEM43 were changed from Arrhythmogenic right ventricular dysplasia 5 to Arrhythmogenic right ventricular dysplasia 5 MIM#604400
Genomic newborn screening: BabyScreen+ v0.1650 TMEM43 Zornitza Stark Publications for gene: TMEM43 were set to
Genomic newborn screening: BabyScreen+ v0.1649 TMEM43 Zornitza Stark Classified gene: TMEM43 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1649 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1648 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Genomic newborn screening: BabyScreen+ v0.1648 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1648 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome; Meckel syndrome to COACH syndrome MIM#216360; Joubert syndrome MIM#10688; Meckel syndrome MIM#607361; Nephronophthisis MIM#613550
Genomic newborn screening: BabyScreen+ v0.1647 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Genomic newborn screening: BabyScreen+ v0.1646 TMEM67 Zornitza Stark Classified gene: TMEM67 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1646 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1645 TMIE Zornitza Stark Marked gene: TMIE as ready
Genomic newborn screening: BabyScreen+ v0.1645 TMIE Zornitza Stark Gene: tmie has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1645 TK2 John Christodoulou reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29602790, PMID: 31125140, PMID: 23385875; Phenotypes: myopathy, ophthalmoparesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1645 TMIE Zornitza Stark Phenotypes for gene: TMIE were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 6 MIM#600971
Genomic newborn screening: BabyScreen+ v0.1644 TMIE Zornitza Stark Publications for gene: TMIE were set to
Genomic newborn screening: BabyScreen+ v0.1643 TMIE Zornitza Stark Tag deafness tag was added to gene: TMIE.
Genomic newborn screening: BabyScreen+ v0.1643 TMPRSS3 Zornitza Stark Tag deafness tag was added to gene: TMPRSS3.
Genomic newborn screening: BabyScreen+ v0.1643 TRIOBP Zornitza Stark Tag deafness tag was added to gene: TRIOBP.
Genomic newborn screening: BabyScreen+ v0.1643 TRMU Zornitza Stark Tag liver tag was added to gene: TRMU.
Genomic newborn screening: BabyScreen+ v0.1643 TSHB Zornitza Stark Tag endocrine tag was added to gene: TSHB.
Genomic newborn screening: BabyScreen+ v0.1643 TTPA Zornitza Stark Tag neurological tag was added to gene: TTPA.
Genomic newborn screening: BabyScreen+ v0.1643 THRA John Christodoulou changed review comment from: Congenital nongoitrous hypothyroidism 6

normal TSH, so will be missed by NBS

treatment with thyroxine; to: Congenital nongoitrous hypothyroidism 6

normal TSH, so will be missed by NBS

treatment with thyroxine; others report that patients are resistant to thyroxine therapy (PMID: 28527577)
Genomic newborn screening: BabyScreen+ v0.1643 THRA John Christodoulou edited their review of gene: THRA: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1643 THRA John Christodoulou reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, PMID: 32349464; Phenotypes: goitre, macrocephaly, delayed suture closure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1643 TH John Christodoulou reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301610; Phenotypes: dystonia, Parkinsonism, dev delay, hypotonia, oculogyric crises; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1643 UBE2T Zornitza Stark Tag haematological tag was added to gene: UBE2T.
Genomic newborn screening: BabyScreen+ v0.1643 UGT1A1 Zornitza Stark Tag liver tag was added to gene: UGT1A1.
Genomic newborn screening: BabyScreen+ v0.1643 UNC13D Zornitza Stark Tag immunological tag was added to gene: UNC13D.
Genomic newborn screening: BabyScreen+ v0.1643 UROS Zornitza Stark Marked gene: UROS as ready
Genomic newborn screening: BabyScreen+ v0.1643 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1643 UROS Zornitza Stark Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic to Porphyria, congenital erythropoietic MIM#263700
Genomic newborn screening: BabyScreen+ v0.1642 UROS Zornitza Stark Publications for gene: UROS were set to
Genomic newborn screening: BabyScreen+ v0.1641 UROS Zornitza Stark Tag treatable tag was added to gene: UROS.
Tag haematological tag was added to gene: UROS.
Genomic newborn screening: BabyScreen+ v0.1641 USH1C Zornitza Stark Marked gene: USH1C as ready
Genomic newborn screening: BabyScreen+ v0.1641 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1641 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from Usher syndrome 1 to Usher syndrome type 1 MIM#276904
Genomic newborn screening: BabyScreen+ v0.1640 USH1C Zornitza Stark Publications for gene: USH1C were set to
Genomic newborn screening: BabyScreen+ v0.1639 USH1C Zornitza Stark Tag deafness tag was added to gene: USH1C.
Genomic newborn screening: BabyScreen+ v0.1639 USH1G Zornitza Stark Marked gene: USH1G as ready
Genomic newborn screening: BabyScreen+ v0.1639 USH1G Zornitza Stark Gene: ush1g has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1639 USH1G Zornitza Stark Phenotypes for gene: USH1G were changed from Usher syndrome 1 to Usher syndrome type 1 MIM#606943
Genomic newborn screening: BabyScreen+ v0.1638 USH1G Zornitza Stark Publications for gene: USH1G were set to
Genomic newborn screening: BabyScreen+ v0.1637 USH1G Zornitza Stark Tag deafness tag was added to gene: USH1G.
Genomic newborn screening: BabyScreen+ v0.1637 USH2A Zornitza Stark Marked gene: USH2A as ready
Genomic newborn screening: BabyScreen+ v0.1637 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1637 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from Usher syndrome 2 to Usher Syndrome Type II MIM#276901
Genomic newborn screening: BabyScreen+ v0.1636 USH2A Zornitza Stark Publications for gene: USH2A were set to
Genomic newborn screening: BabyScreen+ v0.1635 USH2A Zornitza Stark Tag deafness tag was added to gene: USH2A.
Genomic newborn screening: BabyScreen+ v0.1635 TG John Christodoulou reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: goitre; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1635 VCAN Zornitza Stark Marked gene: VCAN as ready
Genomic newborn screening: BabyScreen+ v0.1635 VCAN Zornitza Stark Gene: vcan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1635 VCAN Zornitza Stark Phenotypes for gene: VCAN were changed from Wagner syndrome to Wagner syndrome MIM#143200
Genomic newborn screening: BabyScreen+ v0.1634 VCAN Zornitza Stark Publications for gene: VCAN were set to
Genomic newborn screening: BabyScreen+ v0.1633 VCAN Zornitza Stark Classified gene: VCAN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1633 VCAN Zornitza Stark Gene: vcan has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1632 VCAN Zornitza Stark reviewed gene: VCAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1632 VDR Zornitza Stark Tag endocrine tag was added to gene: VDR.
Genomic newborn screening: BabyScreen+ v0.1632 VHL Zornitza Stark Tag cancer tag was added to gene: VHL.
Genomic newborn screening: BabyScreen+ v0.1632 VPS45 Zornitza Stark Tag immunological tag was added to gene: VPS45.
Genomic newborn screening: BabyScreen+ v0.1632 WAS Zornitza Stark Tag treatable tag was added to gene: WAS.
Tag haematological tag was added to gene: WAS.
Genomic newborn screening: BabyScreen+ v0.1632 WHRN Zornitza Stark Tag deafness tag was added to gene: WHRN.
Genomic newborn screening: BabyScreen+ v0.1632 XIAP Zornitza Stark Tag immunological tag was added to gene: XIAP.
Genomic newborn screening: BabyScreen+ v0.1632 ZAP70 Zornitza Stark Tag immunological tag was added to gene: ZAP70.
Genomic newborn screening: BabyScreen+ v0.1632 TCN2 John Christodoulou reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32841161, PMID: 33685478; Phenotypes: failure to thrive, megaloblastic anaemia, recurrent infections, ID, vomiting, diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1632 SPR John Christodoulou reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28189489, PMID: 32456656; Phenotypes: ID, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1632 SLC25A19 John Christodoulou reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31095747; Phenotypes: recurrent encephalopathy, basal ganglia necrosis, generalized dystonia, polyneuropathy, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1632 SLC25A15 John Christodoulou reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22649802; Phenotypes: dev delay, encephalopathy, seizures, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1632 SLC25A13 John Christodoulou reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301360, PMID: 31255436; Phenotypes: neonatal cholestatic jaundice, neuropsychiatric abnormalities, ID, failure to thrive, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1632 AVPR2 Zornitza Stark Tag endocrine tag was added to gene: AVPR2.
Genomic newborn screening: BabyScreen+ v0.1632 AVP Zornitza Stark Tag endocrine tag was added to gene: AVP.
Genomic newborn screening: BabyScreen+ v0.1632 ATP7B Zornitza Stark Tag treatable tag was added to gene: ATP7B.
Tag metabolic tag was added to gene: ATP7B.
Genomic newborn screening: BabyScreen+ v0.1632 ATP7A Zornitza Stark Tag metabolic tag was added to gene: ATP7A.
Genomic newborn screening: BabyScreen+ v0.1632 ATP6V1B1 Zornitza Stark Tag renal tag was added to gene: ATP6V1B1.
Genomic newborn screening: BabyScreen+ v0.1632 ATP6V0A4 Zornitza Stark Tag renal tag was added to gene: ATP6V0A4.
Genomic newborn screening: BabyScreen+ v0.1632 ASS1 Zornitza Stark Tag metabolic tag was added to gene: ASS1.
Genomic newborn screening: BabyScreen+ v0.1632 ASL Zornitza Stark Tag metabolic tag was added to gene: ASL.
Genomic newborn screening: BabyScreen+ v0.1632 ARSB Zornitza Stark Tag metabolic tag was added to gene: ARSB.
Genomic newborn screening: BabyScreen+ v0.1632 ARSA Zornitza Stark Tag metabolic tag was added to gene: ARSA.
Genomic newborn screening: BabyScreen+ v0.1632 ARPC1B Zornitza Stark Tag immunological tag was added to gene: ARPC1B.
Genomic newborn screening: BabyScreen+ v0.1632 ARG1 Zornitza Stark Tag metabolic tag was added to gene: ARG1.
Genomic newborn screening: BabyScreen+ v0.1632 AQP2 Zornitza Stark Tag endocrine tag was added to gene: AQP2.
Genomic newborn screening: BabyScreen+ v0.1632 AP3B1 Zornitza Stark Tag haematological tag was added to gene: AP3B1.
Genomic newborn screening: BabyScreen+ v0.1632 ACVRL1 Zornitza Stark Tag treatable tag was added to gene: ACVRL1.
Tag vascular tag was added to gene: ACVRL1.
Genomic newborn screening: BabyScreen+ v0.1632 PROS1 Zornitza Stark Marked gene: PROS1 as ready
Genomic newborn screening: BabyScreen+ v0.1632 PROS1 Zornitza Stark Gene: pros1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1632 PROS1 Zornitza Stark Phenotypes for gene: PROS1 were changed from Protein S deficiency to Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
Genomic newborn screening: BabyScreen+ v0.1631 PROS1 Zornitza Stark Mode of inheritance for gene: PROS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1630 PROS1 Zornitza Stark Classified gene: PROS1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1630 PROS1 Zornitza Stark Gene: pros1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1629 PROS1 Zornitza Stark reviewed gene: PROS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336, Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1629 PROP1 Zornitza Stark Marked gene: PROP1 as ready
Genomic newborn screening: BabyScreen+ v0.1629 PROP1 Zornitza Stark Gene: prop1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1629 PROP1 Zornitza Stark Tag treatable tag was added to gene: PROP1.
Tag endocrine tag was added to gene: PROP1.
Genomic newborn screening: BabyScreen+ v0.1629 PROP1 Zornitza Stark reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1629 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Genomic newborn screening: BabyScreen+ v0.1629 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1629 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Genomic newborn screening: BabyScreen+ v0.1628 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1627 PROKR2 Zornitza Stark Classified gene: PROKR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1627 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1626 PROKR2 Zornitza Stark reviewed gene: PROKR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1626 PROC Zornitza Stark Marked gene: PROC as ready
Genomic newborn screening: BabyScreen+ v0.1626 PROC Zornitza Stark Gene: proc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1626 PROC Zornitza Stark Phenotypes for gene: PROC were changed from Thrombophilia due to protein C deficiency to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)
Genomic newborn screening: BabyScreen+ v0.1625 PROC Zornitza Stark Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1624 PROC Zornitza Stark Classified gene: PROC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1624 PROC Zornitza Stark Gene: proc has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1623 PROC Zornitza Stark reviewed gene: PROC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia due to protein C deficiency, autosomal dominant (176860), Thrombophilia due to protein C deficiency, autosomal recessive (612304); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1623 PRKDC Zornitza Stark Marked gene: PRKDC as ready
Genomic newborn screening: BabyScreen+ v0.1623 PRKDC Zornitza Stark Gene: prkdc has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1623 PRKDC Zornitza Stark Tag treatable tag was added to gene: PRKDC.
Tag immunological tag was added to gene: PRKDC.
Genomic newborn screening: BabyScreen+ v0.1623 PRKDC Zornitza Stark reviewed gene: PRKDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1623 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Genomic newborn screening: BabyScreen+ v0.1623 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1623 PRKAR1A Zornitza Stark Phenotypes for gene: PRKAR1A were changed from Carney complex to Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
Genomic newborn screening: BabyScreen+ v0.1622 PRKAR1A Zornitza Stark Classified gene: PRKAR1A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1622 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1621 PRKAR1A Zornitza Stark reviewed gene: PRKAR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 1, with or without hormone resistance, MIM# 101800, Carney complex, type 1, MIM# 160980, Myxoma, intracardiac, MIM# 255960, Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark Tag treatable tag was added to gene: PRF1.
Tag immunological tag was added to gene: PRF1.
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark changed review comment from: Treatment: Emapalumab, bone marrow transplant; to: Well established gene-disease association.

Onset is generally in infancy or early childhood.

Treatment: Emapalumab, bone marrow transplant.

Non-genetic confirmatory tests: natural killer cell activity, cytotoxic T lymphocyte activity
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark edited their review of gene: PRF1: Changed phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 603553
Genomic newborn screening: BabyScreen+ v0.1621 PRF1 Zornitza Stark reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1621 PNPO Zornitza Stark Marked gene: PNPO as ready
Genomic newborn screening: BabyScreen+ v0.1621 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1621 PNPO Zornitza Stark Publications for gene: PNPO were set to
Genomic newborn screening: BabyScreen+ v0.1620 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from Epileptic encephalopathy, neonatal, MIM#610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Genomic newborn screening: BabyScreen+ v0.1619 PNPO Zornitza Stark Tag treatable tag was added to gene: PNPO.
Tag metabolic tag was added to gene: PNPO.
Genomic newborn screening: BabyScreen+ v0.1619 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Genomic newborn screening: BabyScreen+ v0.1619 PPT1 Zornitza Stark Gene: ppt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1619 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Genomic newborn screening: BabyScreen+ v0.1618 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Genomic newborn screening: BabyScreen+ v0.1617 PPT1 Zornitza Stark Classified gene: PPT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1617 PPT1 Zornitza Stark Gene: ppt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1616 POU4F3 Zornitza Stark Marked gene: POU4F3 as ready
Genomic newborn screening: BabyScreen+ v0.1616 POU4F3 Zornitza Stark Gene: pou4f3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1616 POU4F3 Zornitza Stark Phenotypes for gene: POU4F3 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 15, MIM# 602459
Genomic newborn screening: BabyScreen+ v0.1615 POU4F3 Zornitza Stark Classified gene: POU4F3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1615 POU4F3 Zornitza Stark Gene: pou4f3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1614 POU4F3 Zornitza Stark reviewed gene: POU4F3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 15, MIM# 602459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1614 POU3F4 Zornitza Stark Marked gene: POU3F4 as ready
Genomic newborn screening: BabyScreen+ v0.1614 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1614 POU3F4 Zornitza Stark Phenotypes for gene: POU3F4 were changed from Deafness, X-linked to Deafness, X-linked 2, MIM#304400
Genomic newborn screening: BabyScreen+ v0.1613 POU3F4 Zornitza Stark Classified gene: POU3F4 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1613 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1612 PYGL John Christodoulou edited their review of gene: PYGL: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1612 POU3F4 Zornitza Stark reviewed gene: POU3F4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, X-linked 2, MIM#304400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1612 PYGL John Christodoulou edited their review of gene: PYGL: Changed publications: PMID: 30659246, PMID: 35725468, PMID: 20301760; Changed phenotypes: hepatomegaly, hypoglycaemia, cardiomyopathy, short stature
Genomic newborn screening: BabyScreen+ v0.1612 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Genomic newborn screening: BabyScreen+ v0.1612 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1612 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, MIM#613038 to Pituitary hormone deficiency, combined, 1 MIM# 613038
Genomic newborn screening: BabyScreen+ v0.1611 POU1F1 Zornitza Stark Mode of inheritance for gene: POU1F1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1610 POU1F1 Zornitza Stark Tag treatable tag was added to gene: POU1F1.
Tag endocrine tag was added to gene: POU1F1.
Genomic newborn screening: BabyScreen+ v0.1610 POU1F1 Zornitza Stark reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1 MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1610 PYGL John Christodoulou commented on gene: PYGL: Generally a mild disorder - presenting in early childhood with hepatomegaly due to glycogen storage

some at risk of hypoglycaemia; some may develop muscle cramps or cardiomyopathy

risk of hepatic adenomas - ultrasound surveillance recommended from 5 yrs

treatment cornstarch and high protein diet - growth improves and hypoglycaemia is no longer problem
Genomic newborn screening: BabyScreen+ v0.1610 PYGL John Christodoulou reviewed gene: PYGL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hepatomegaly, hypoglycaemia, cardiomyo; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1610 PORCN Zornitza Stark Marked gene: PORCN as ready
Genomic newborn screening: BabyScreen+ v0.1610 PORCN Zornitza Stark Gene: porcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1610 PORCN Zornitza Stark Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM#305600
Genomic newborn screening: BabyScreen+ v0.1609 PORCN Zornitza Stark Mode of inheritance for gene: PORCN 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+ v0.1608 PORCN Zornitza Stark Classified gene: PORCN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1608 PORCN Zornitza Stark Gene: porcn has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1607 PORCN Zornitza Stark reviewed gene: PORCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal dermal hypoplasia, MIM#305600; 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+ v0.1607 PSPH John Christodoulou reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29899766; Phenotypes: microcephaly, seizures, hypertonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1607 POR Zornitza Stark Marked gene: POR as ready
Genomic newborn screening: BabyScreen+ v0.1607 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1607 POR Zornitza Stark Phenotypes for gene: POR were changed from Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750 to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571
Genomic newborn screening: BabyScreen+ v0.1606 POR Zornitza Stark Tag treatable tag was added to gene: POR.
Tag endocrine tag was added to gene: POR.
Genomic newborn screening: BabyScreen+ v0.1606 POR Zornitza Stark edited their review of gene: POR: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v0.1606 POR Zornitza Stark reviewed gene: POR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750, Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1606 PPT1 John Christodoulou reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21990111; Phenotypes: neurodegeneration, seizures, ataxia, optic atrophy, retinal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1606 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Genomic newborn screening: BabyScreen+ v0.1606 POMT2 Zornitza Stark Gene: pomt2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1606 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158
Genomic newborn screening: BabyScreen+ v0.1605 POMT2 Zornitza Stark Classified gene: POMT2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1605 POMT2 Zornitza Stark Gene: pomt2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1604 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1604 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Genomic newborn screening: BabyScreen+ v0.1604 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1604 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135; Retinitis pigmentosa 76, MIM# 617123
Genomic newborn screening: BabyScreen+ v0.1603 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1603 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1602 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135, Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1602 POLH Zornitza Stark Marked gene: POLH as ready
Genomic newborn screening: BabyScreen+ v0.1602 POLH Zornitza Stark Gene: polh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1602 POLH Zornitza Stark Phenotypes for gene: POLH were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, variant type, MIM# 278750
Genomic newborn screening: BabyScreen+ v0.1601 POLH Zornitza Stark Classified gene: POLH as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1601 POLH Zornitza Stark Gene: polh has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1600 POLH Zornitza Stark reviewed gene: POLH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1600 POLG Zornitza Stark Marked gene: POLG as ready
Genomic newborn screening: BabyScreen+ v0.1600 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1600 POLG Zornitza Stark Phenotypes for gene: POLG were changed from POLG-Related Ataxia Neuropathy Spectrum Disorders to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450; Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640
Genomic newborn screening: BabyScreen+ v0.1599 POLG Zornitza Stark Publications for gene: POLG were set to
Genomic newborn screening: BabyScreen+ v0.1598 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1597 POLG Zornitza Stark Classified gene: POLG as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1597 POLG Zornitza Stark Gene: polg has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1596 POLG Zornitza Stark reviewed gene: POLG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459, Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450, Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1596 POLG John Christodoulou reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30451971, PMID: 21880868; Phenotypes: seizures, dev delay, hypotonia, liver failure, neurodegeneration, gut pseudo obstruction, peripheral neuropathy, ophthalmoplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1596 PNKP Zornitza Stark Marked gene: PNKP as ready
Genomic newborn screening: BabyScreen+ v0.1596 PNKP Zornitza Stark Gene: pnkp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1596 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from Microcephaly - seizures - developmental delay to Ataxia-oculomotor apraxia 4, MIM#616267; Microcephaly, seizures, and developmental delay, MIM#613402
Genomic newborn screening: BabyScreen+ v0.1595 PNKP Zornitza Stark Publications for gene: PNKP were set to
Genomic newborn screening: BabyScreen+ v0.1594 PNKP Zornitza Stark Classified gene: PNKP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1594 PNKP Zornitza Stark Gene: pnkp has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1593 PNPO John Christodoulou reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34769443, PMID: 32888189; Phenotypes: neonatal seizures, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1593 PNKP John Christodoulou reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27125728, PMID: 27066567, PMID: 27232581; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1593 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Genomic newborn screening: BabyScreen+ v0.1593 POMT1 Zornitza Stark Gene: pomt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1593 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308
Genomic newborn screening: BabyScreen+ v0.1592 POMT1 Zornitza Stark Classified gene: POMT1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1592 POMT1 Zornitza Stark Gene: pomt1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1591 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1591 PQBP1 Zornitza Stark Marked gene: PQBP1 as ready
Genomic newborn screening: BabyScreen+ v0.1591 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1591 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from Mental retardation to Renpenning syndrome, MIM#309500
Genomic newborn screening: BabyScreen+ v0.1590 PQBP1 Zornitza Stark Classified gene: PQBP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1590 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1589 PQBP1 Zornitza Stark reviewed gene: PQBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renpenning syndrome, MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1589 PNKD Zornitza Stark Marked gene: PNKD as ready
Genomic newborn screening: BabyScreen+ v0.1589 PNKD Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1589 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from Paroxysmal nonkinesiogenic dyskinesia to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
Genomic newborn screening: BabyScreen+ v0.1588 PNKD Zornitza Stark Classified gene: PNKD as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1588 PNKD Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1587 PNKD Zornitza Stark reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1587 PMP22 Zornitza Stark Marked gene: PMP22 as ready
Genomic newborn screening: BabyScreen+ v0.1587 PMP22 Zornitza Stark Gene: pmp22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1587 PMP22 Zornitza Stark Phenotypes for gene: PMP22 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800
Genomic newborn screening: BabyScreen+ v0.1586 PMP22 Zornitza Stark Classified gene: PMP22 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1586 PMP22 Zornitza Stark Gene: pmp22 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1585 PMP22 Zornitza Stark reviewed gene: PMP22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1A, MIM# 118220, Charcot-Marie-Tooth disease, type 1E, MIM# 118300, Dejerine-Sottas disease, MIM# 145900, Neuropathy, recurrent, with pressure palsies 162500, Roussy-Levy syndrome 180800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1585 PMM2 Zornitza Stark Marked gene: PMM2 as ready
Genomic newborn screening: BabyScreen+ v0.1585 PMM2 Zornitza Stark Gene: pmm2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1585 PMM2 Zornitza Stark Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia to Congenital disorder of glycosylation, type Ia, MIM# 212065
Genomic newborn screening: BabyScreen+ v0.1584 PMM2 Zornitza Stark Publications for gene: PMM2 were set to
Genomic newborn screening: BabyScreen+ v0.1583 PMM2 Zornitza Stark Classified gene: PMM2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1583 PMM2 Zornitza Stark Gene: pmm2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1582 PMM2 Zornitza Stark Tag for review tag was added to gene: PMM2.
Tag metabolic tag was added to gene: PMM2.
Genomic newborn screening: BabyScreen+ v0.1582 PMM2 Zornitza Stark edited their review of gene: PMM2: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v0.1582 PMM2 Zornitza Stark reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30740725, 31636082; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1582 PLPBP Zornitza Stark Marked gene: PLPBP as ready
Genomic newborn screening: BabyScreen+ v0.1582 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1582 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Genomic newborn screening: BabyScreen+ v0.1581 PLPBP Zornitza Stark Tag treatable tag was added to gene: PLPBP.
Tag metabolic tag was added to gene: PLPBP.
Genomic newborn screening: BabyScreen+ v0.1581 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM#617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1581 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Genomic newborn screening: BabyScreen+ v0.1581 PLP1 Zornitza Stark Gene: plp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1581 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920
Genomic newborn screening: BabyScreen+ v0.1580 PLP1 Zornitza Stark Classified gene: PLP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1580 PLP1 Zornitza Stark Gene: plp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1579 PLP1 Zornitza Stark reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1579 PLOD1 Zornitza Stark Marked gene: PLOD1 as ready
Genomic newborn screening: BabyScreen+ v0.1579 PLOD1 Zornitza Stark Gene: plod1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1579 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos syndrome, kyphoscoliotic type to Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400
Genomic newborn screening: BabyScreen+ v0.1578 PLOD1 Zornitza Stark Classified gene: PLOD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1578 PLOD1 Zornitza Stark Gene: plod1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1577 PLOD1 Zornitza Stark reviewed gene: PLOD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1577 PLG Zornitza Stark Marked gene: PLG as ready
Genomic newborn screening: BabyScreen+ v0.1577 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1577 PLG Zornitza Stark Phenotypes for gene: PLG were changed from Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090 to Plasminogen deficiency, type I, MIM# 217090
Genomic newborn screening: BabyScreen+ v0.1576 PLG Zornitza Stark Tag treatable tag was added to gene: PLG.
Tag haematological tag was added to gene: PLG.
Genomic newborn screening: BabyScreen+ v0.1576 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29321155; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1576 PLEC Zornitza Stark Marked gene: PLEC as ready
Genomic newborn screening: BabyScreen+ v0.1576 PLEC Zornitza Stark Gene: plec has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1576 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from Muscular dystrophy; Epidermolysis bullosa simplex to Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138; Epidermolysis bullosa simplex, Ogna type MIM#131950; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Genomic newborn screening: BabyScreen+ v0.1575 PLEC Zornitza Stark Mode of inheritance for gene: PLEC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1574 PLEC Zornitza Stark Classified gene: PLEC as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1574 PLEC Zornitza Stark Gene: plec has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1573 PLEC Zornitza Stark reviewed gene: PLEC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138, Epidermolysis bullosa simplex, Ogna type MIM#131950, Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1573 PLCE1 Zornitza Stark Marked gene: PLCE1 as ready
Genomic newborn screening: BabyScreen+ v0.1573 PLCE1 Zornitza Stark Gene: plce1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1573 PLCE1 Zornitza Stark Phenotypes for gene: PLCE1 were changed from Nephrotic syndrome to Nephrotic syndrome, type 3, MIM# 610725
Genomic newborn screening: BabyScreen+ v0.1572 PLCE1 Zornitza Stark Classified gene: PLCE1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1572 PLCE1 Zornitza Stark Gene: plce1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1571 PLCE1 Zornitza Stark reviewed gene: PLCE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1571 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Genomic newborn screening: BabyScreen+ v0.1571 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1571 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953
Genomic newborn screening: BabyScreen+ v0.1570 PLA2G6 Zornitza Stark Classified gene: PLA2G6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1570 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1569 PLA2G6 Zornitza Stark reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217, Parkinson disease 14, autosomal recessive MIM#612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1569 PKLR Zornitza Stark Marked gene: PKLR as ready
Genomic newborn screening: BabyScreen+ v0.1569 PKLR Zornitza Stark Gene: pklr has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1569 PKLR Zornitza Stark Publications for gene: PKLR were set to
Genomic newborn screening: BabyScreen+ v0.1568 PKLR Zornitza Stark edited their review of gene: PKLR: Changed publications: 32702739
Genomic newborn screening: BabyScreen+ v0.1568 PKLR Zornitza Stark changed review comment from: ranging from fetal hydrops and symptomatic anemia requiring lifelong transfusions to fully compensated hemolysis.; to: Established gene-disease association.

Severity ranges from fetal hydrops and symptomatic anaemia requiring lifelong transfusions to fully compensated haemolysis.

Treatment: Mitapivat. Red cell transfusions.

For review.
Genomic newborn screening: BabyScreen+ v0.1568 PKLR Zornitza Stark edited their review of gene: PKLR: Changed phenotypes: Pyruvate Kinase deficiency, MIM# 266200; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1568 PKLR Zornitza Stark reviewed gene: PKLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1568 PKHD1 Zornitza Stark Marked gene: PKHD1 as ready
Genomic newborn screening: BabyScreen+ v0.1568 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1568 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Genomic newborn screening: BabyScreen+ v0.1567 PKHD1 Zornitza Stark Classified gene: PKHD1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1567 PKHD1 Zornitza Stark Gene: pkhd1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1566 PKHD1 Zornitza Stark reviewed gene: PKHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1566 PKD2 Zornitza Stark Marked gene: PKD2 as ready
Genomic newborn screening: BabyScreen+ v0.1566 PKD2 Zornitza Stark Gene: pkd2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1566 PKD2 Zornitza Stark Phenotypes for gene: PKD2 were changed from Polycystic kidney disease to Polycystic kidney disease 2, MIM# 613095
Genomic newborn screening: BabyScreen+ v0.1565 PKD2 Zornitza Stark Classified gene: PKD2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1565 PKD2 Zornitza Stark Gene: pkd2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1564 PKD2 Zornitza Stark Tag for review tag was added to gene: PKD2.
Tag treatable tag was added to gene: PKD2.
Tag renal tag was added to gene: PKD2.
Genomic newborn screening: BabyScreen+ v0.1564 PKD2 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset of renal failure is generally in adulthood, though cysts are apparent earlier.

Treatment: Tolvaptan; to: Well established gene-disease association.

Onset of renal failure is generally in late adulthood, though cysts are apparent earlier.

Treatment: Tolvaptan
Genomic newborn screening: BabyScreen+ v0.1564 PKD2 Zornitza Stark edited their review of gene: PKD2: Changed phenotypes: Polycystic kidney disease 2, MIM# 613095
Genomic newborn screening: BabyScreen+ v0.1564 PKD2 Zornitza Stark reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1564 PKD1 Zornitza Stark Marked gene: PKD1 as ready
Genomic newborn screening: BabyScreen+ v0.1564 PKD1 Zornitza Stark Gene: pkd1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1564 PKD1 Zornitza Stark Phenotypes for gene: PKD1 were changed from Polycystic kidney disease to Polycystic kidney disease 1, MIM# 173900
Genomic newborn screening: BabyScreen+ v0.1563 PKD1 Zornitza Stark Classified gene: PKD1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1563 PKD1 Zornitza Stark Gene: pkd1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1562 PKD1 Zornitza Stark Tag for review tag was added to gene: PKD1.
Tag treatable tag was added to gene: PKD1.
Tag renal tag was added to gene: PKD1.
Genomic newborn screening: BabyScreen+ v0.1562 PKD1 Zornitza Stark reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 1, MIM# 173900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1562 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Genomic newborn screening: BabyScreen+ v0.1562 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1562 PIK3CA Zornitza Stark Classified gene: PIK3CA as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1562 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1561 PIK3CA Zornitza Stark Tag for review tag was added to gene: PIK3CA.
Genomic newborn screening: BabyScreen+ v0.1561 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to gNBS. Sources: Expert list
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 33392635; 33639990
Phenotypes for gene: PIK3CA were set to PIK3CA related overgrowth spectrum
Review for gene: PIK3CA was set to AMBER
Added comment: Established association with a range of overgrowth phenotypes.

Note variants are SOMATIC and may not be detectable reliably.

Treatment: alpelisib, miransertib. Unsure if these are available.
Sources: Expert list
Genomic newborn screening: BabyScreen+ v0.1560 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Genomic newborn screening: BabyScreen+ v0.1560 PINK1 Zornitza Stark Gene: pink1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1560 PINK1 Zornitza Stark Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset to Parkinson disease 6, early onset, MIM#605909
Genomic newborn screening: BabyScreen+ v0.1559 PINK1 Zornitza Stark Mode of inheritance for gene: PINK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1558 PINK1 Zornitza Stark Classified gene: PINK1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1558 PINK1 Zornitza Stark Gene: pink1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1557 PINK1 Zornitza Stark reviewed gene: PINK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 6, early onset, MIM#605909; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1557 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Genomic newborn screening: BabyScreen+ v0.1557 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1557 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to
Genomic newborn screening: BabyScreen+ v0.1556 PIK3R1 Zornitza Stark Tag treatable tag was added to gene: PIK3R1.
Tag immunological tag was added to gene: PIK3R1.
Genomic newborn screening: BabyScreen+ v0.1556 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31111319, 33401995, 34033842; Phenotypes: Immunodeficiency 36, MIM# 616005, Agammaglobulinemia 7, autosomal recessive , MIM# 615214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1556 PIK3CD Zornitza Stark edited their review of gene: PIK3CD: Changed publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295, 30911953, 31111319, 34033842
Genomic newborn screening: BabyScreen+ v0.1556 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Genomic newborn screening: BabyScreen+ v0.1556 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1556 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14, MIM # 615513 to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513
Genomic newborn screening: BabyScreen+ v0.1555 PIK3CD Zornitza Stark Publications for gene: PIK3CD were set to
Genomic newborn screening: BabyScreen+ v0.1554 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1553 PIK3CD Zornitza Stark Tag treatable tag was added to gene: PIK3CD.
Tag immunological tag was added to gene: PIK3CD.
Genomic newborn screening: BabyScreen+ v0.1553 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295; Phenotypes: Immunodeficiency 14B, autosomal recessive, MIM# 619281, Immunodeficiency 14A, autosomal dominant, MIM# 615513; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1553 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Genomic newborn screening: BabyScreen+ v0.1553 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1553 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, type 5 to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146
Genomic newborn screening: BabyScreen+ v0.1552 PIEZO2 Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1551 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1551 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1550 PIEZO2 Zornitza Stark reviewed gene: PIEZO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1550 PDZD7 Zornitza Stark Marked gene: PDZD7 as ready
Genomic newborn screening: BabyScreen+ v0.1550 PDZD7 Zornitza Stark Gene: pdzd7 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1550 PDZD7 Zornitza Stark Phenotypes for gene: PDZD7 were changed from Usher syndrome to Deafness, autosomal recessive 57, MIM# 618003; Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472
Genomic newborn screening: BabyScreen+ v0.1549 PDZD7 Zornitza Stark reviewed gene: PDZD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 57, MIM# 618003, Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark edited their review of gene: PHF6: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1549 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Genomic newborn screening: BabyScreen+ v0.1548 PHF6 Zornitza Stark Classified gene: PHF6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1548 PHF6 Zornitza Stark Gene: phf6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1547 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; 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+ v0.1547 PHEX Zornitza Stark Marked gene: PHEX as ready
Genomic newborn screening: BabyScreen+ v0.1547 PHEX Zornitza Stark Gene: phex has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1547 PHEX Zornitza Stark Publications for gene: PHEX were set to
Genomic newborn screening: BabyScreen+ v0.1546 PHEX Zornitza Stark Mode of inheritance for gene: PHEX 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+ v0.1545 PHEX Zornitza Stark Tag treatable tag was added to gene: PHEX.
Tag skeletal tag was added to gene: PHEX.
Genomic newborn screening: BabyScreen+ v0.1545 PHEX Zornitza Stark reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: None; Publications: 29791829; Phenotypes: Hypophosphatemic rickets, MIM#307800; 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+ v0.1545 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Genomic newborn screening: BabyScreen+ v0.1545 PGM3 Zornitza Stark Gene: pgm3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1545 PGM3 Zornitza Stark Tag treatable tag was added to gene: PGM3.
Tag immunological tag was added to gene: PGM3.
Genomic newborn screening: BabyScreen+ v0.1545 PGM3 Zornitza Stark reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1545 TCOF1 Seb Lunke Marked gene: TCOF1 as ready
Genomic newborn screening: BabyScreen+ v0.1545 TCOF1 Seb Lunke Gene: tcof1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1545 TCOF1 Seb Lunke Phenotypes for gene: TCOF1 were changed from Treacher Collins syndrome 1 to Treacher Collins syndrome 1, MIM# 154500
Genomic newborn screening: BabyScreen+ v0.1544 TCOF1 Seb Lunke Classified gene: TCOF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1544 TCOF1 Seb Lunke Gene: tcof1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1543 TCOF1 Seb Lunke reviewed gene: TCOF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1543 TCN2 Seb Lunke Marked gene: TCN2 as ready
Genomic newborn screening: BabyScreen+ v0.1543 TCN2 Seb Lunke Gene: tcn2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1543 TCN2 Seb Lunke Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 to Transcobalamin II deficiency MIM# 275350
Genomic newborn screening: BabyScreen+ v0.1542 TCN2 Seb Lunke reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transcobalamin II deficiency MIM# 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1542 TCIRG1 Seb Lunke Marked gene: TCIRG1 as ready
Genomic newborn screening: BabyScreen+ v0.1542 TCIRG1 Seb Lunke Gene: tcirg1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1542 TCIRG1 Seb Lunke Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, infantile malignant to Osteopetrosis, autosomal recessive 1, MIM# 259700
Genomic newborn screening: BabyScreen+ v0.1541 TCIRG1 Seb Lunke reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1541 TCF3 Seb Lunke Marked gene: TCF3 as ready
Genomic newborn screening: BabyScreen+ v0.1541 TCF3 Seb Lunke Gene: tcf3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1541 TCF3 Seb Lunke Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Genomic newborn screening: BabyScreen+ v0.1540 TCF3 Seb Lunke Mode of inheritance for gene: TCF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1539 TCF3 Seb Lunke reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1539 TBX5 Seb Lunke Marked gene: TBX5 as ready
Genomic newborn screening: BabyScreen+ v0.1539 TBX5 Seb Lunke Gene: tbx5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1539 TBX5 Seb Lunke Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome to Holt-Oram syndrome, MIM# 142900
Genomic newborn screening: BabyScreen+ v0.1538 TBX5 Seb Lunke Classified gene: TBX5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1538 TBX5 Seb Lunke Gene: tbx5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1537 TBX5 Seb Lunke reviewed gene: TBX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1537 TBX19 Seb Lunke Marked gene: TBX19 as ready
Genomic newborn screening: BabyScreen+ v0.1537 TBX19 Seb Lunke Gene: tbx19 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1537 TBX19 Seb Lunke Publications for gene: TBX19 were set to
Genomic newborn screening: BabyScreen+ v0.1536 TBX19 Seb Lunke Tag treatable tag was added to gene: TBX19.
Tag endocrine tag was added to gene: TBX19.
Genomic newborn screening: BabyScreen+ v0.1536 TBX19 Seb Lunke reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1536 TBX1 Seb Lunke Marked gene: TBX1 as ready
Genomic newborn screening: BabyScreen+ v0.1536 TBX1 Seb Lunke Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1536 TBX1 Seb Lunke Phenotypes for gene: TBX1 were changed from DiGeorge syndrome to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430
Genomic newborn screening: BabyScreen+ v0.1535 TBX1 Seb Lunke Classified gene: TBX1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1535 TBX1 Seb Lunke Gene: tbx1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1534 TBX1 Seb Lunke Tag for review tag was added to gene: TBX1.
Tag cardiac tag was added to gene: TBX1.
Tag immunological tag was added to gene: TBX1.
Genomic newborn screening: BabyScreen+ v0.1534 TBX1 Seb Lunke reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1534 TBC1D24 Seb Lunke Marked gene: TBC1D24 as ready
Genomic newborn screening: BabyScreen+ v0.1534 TBC1D24 Seb Lunke Gene: tbc1d24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1534 TBC1D24 Seb Lunke Phenotypes for gene: TBC1D24 were changed from Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome to DOORS syndrome MIM#220500
Genomic newborn screening: BabyScreen+ v0.1533 TBC1D24 Seb Lunke Classified gene: TBC1D24 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1533 TBC1D24 Seb Lunke Gene: tbc1d24 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1532 TBC1D24 Seb Lunke reviewed gene: TBC1D24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: DOORS syndrome MIM#220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1532 TAZ Seb Lunke Marked gene: TAZ as ready
Genomic newborn screening: BabyScreen+ v0.1532 TAZ Seb Lunke Gene: taz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1532 TAZ Seb Lunke Publications for gene: TAZ were set to
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke Deleted their review
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke Classified gene: TAZ as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1531 TAZ Seb Lunke Gene: taz has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1530 TAZ Seb Lunke reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1530 TIMM8A Lilian Rudd reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301395; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1530 TK2 Lilian Rudd reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23230576, PMID: 29602790, PMID: 31125140; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1530 SURF1 Seb Lunke Marked gene: SURF1 as ready
Genomic newborn screening: BabyScreen+ v0.1530 SURF1 Seb Lunke Gene: surf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1530 SURF1 Seb Lunke Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Genomic newborn screening: BabyScreen+ v0.1529 SURF1 Seb Lunke Classified gene: SURF1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1529 SURF1 Seb Lunke Gene: surf1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1528 SURF1 Seb Lunke reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1528 SUOX Seb Lunke Marked gene: SUOX as ready
Genomic newborn screening: BabyScreen+ v0.1528 SUOX Seb Lunke Gene: suox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1528 SUOX Seb Lunke Phenotypes for gene: SUOX were changed from Sulphite oxidase deficiency to Sulfite oxidase deficiency, MIM# 272300
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Tag for review tag was added to gene: SUOX.
Tag metabolic tag was added to gene: SUOX.
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Classified gene: SUOX as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1527 SUOX Seb Lunke Gene: suox has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1526 SUOX Seb Lunke reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: None; Publications: 28933809; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1526 SUCLG1 Seb Lunke Marked gene: SUCLG1 as ready
Genomic newborn screening: BabyScreen+ v0.1526 SUCLG1 Seb Lunke Gene: suclg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1526 SUCLG1 Seb Lunke Phenotypes for gene: SUCLG1 were changed from Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Genomic newborn screening: BabyScreen+ v0.1525 SUCLG1 Seb Lunke Classified gene: SUCLG1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1525 SUCLG1 Seb Lunke Gene: suclg1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1524 SUCLG1 Seb Lunke reviewed gene: SUCLG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1524 SUCLA2 Seb Lunke Marked gene: SUCLA2 as ready
Genomic newborn screening: BabyScreen+ v0.1524 SUCLA2 Seb Lunke Gene: sucla2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1524 SUCLA2 Seb Lunke Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Genomic newborn screening: BabyScreen+ v0.1523 SUCLA2 Seb Lunke Classified gene: SUCLA2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1523 SUCLA2 Seb Lunke Gene: sucla2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1522 SUCLA2 Seb Lunke reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1522 STXBP2 Seb Lunke Marked gene: STXBP2 as ready
Genomic newborn screening: BabyScreen+ v0.1522 STXBP2 Seb Lunke Gene: stxbp2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1522 STXBP2 Seb Lunke Phenotypes for gene: STXBP2 were changed from Haemophagocytic lymphohistiocytosis, MIM#613101 to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101
Genomic newborn screening: BabyScreen+ v0.1521 STXBP2 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset, multi-system disorder

Treatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant

Non-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity; to: Established gene-disease association.

Childhood onset, hyperinflammatory disorder

Treatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant

Non-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity
Genomic newborn screening: BabyScreen+ v0.1521 STXBP2 Seb Lunke reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1521 STXBP1 Seb Lunke Marked gene: STXBP1 as ready
Genomic newborn screening: BabyScreen+ v0.1521 STXBP1 Seb Lunke Gene: stxbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1521 STXBP1 Seb Lunke Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile to Developmental and epileptic encephalopathy 4, MIM# 612164
Genomic newborn screening: BabyScreen+ v0.1520 STXBP1 Seb Lunke Classified gene: STXBP1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1520 STXBP1 Seb Lunke Gene: stxbp1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke Deleted their review
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke Deleted their comment
Genomic newborn screening: BabyScreen+ v0.1519 STXBP1 Seb Lunke reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1519 STX11 Seb Lunke Marked gene: STX11 as ready
Genomic newborn screening: BabyScreen+ v0.1519 STX11 Seb Lunke Gene: stx11 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1519 STX11 Seb Lunke reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1519 STS Seb Lunke Marked gene: STS as ready
Genomic newborn screening: BabyScreen+ v0.1519 STS Seb Lunke Gene: sts has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1519 STS Seb Lunke Phenotypes for gene: STS were changed from Ichthyosis, X-linked to Ichthyosis, X-linked, MIM# 308100
Genomic newborn screening: BabyScreen+ v0.1518 STS Seb Lunke Classified gene: STS as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1518 STS Seb Lunke Gene: sts has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1517 STS Seb Lunke reviewed gene: STS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v0.1517 TMC1 Lilian Rudd reviewed gene: TMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:11850618, PMID: 26879195; Phenotypes: Deafness, autosomal recessive 7 MIM#600974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1517 TMEM43 Lilian Rudd reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301310, PMID: 34674311; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Marked gene: STRC as ready
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Tag for review tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v0.1517 STRC Seb Lunke Phenotypes for gene: STRC were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 16, MIM# 603720
Genomic newborn screening: BabyScreen+ v0.1516 STRC Seb Lunke Classified gene: STRC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1516 STRC Seb Lunke Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1515 STRC Seb Lunke reviewed gene: STRC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1515 STRA6 Seb Lunke Marked gene: STRA6 as ready
Genomic newborn screening: BabyScreen+ v0.1515 STRA6 Seb Lunke Gene: stra6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1515 STRA6 Seb Lunke Phenotypes for gene: STRA6 were changed from Microphthalmia, syndromic to Microphthalmia, syndromic 9, MIM# 601186
Genomic newborn screening: BabyScreen+ v0.1514 STRA6 Seb Lunke Classified gene: STRA6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1514 STRA6 Seb Lunke Gene: stra6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1513 STRA6 Seb Lunke reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1513 STK11 Seb Lunke Marked gene: STK11 as ready
Genomic newborn screening: BabyScreen+ v0.1513 STK11 Seb Lunke Gene: stk11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1513 STK11 Seb Lunke Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome to Peutz-Jeghers syndrome, MIM# 175200
Genomic newborn screening: BabyScreen+ v0.1512 STK11 Seb Lunke Publications for gene: STK11 were set to
Genomic newborn screening: BabyScreen+ v0.1511 STK11 Seb Lunke Classified gene: STK11 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1511 STK11 Seb Lunke Gene: stk11 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1510 STK11 Seb Lunke Tag for review tag was added to gene: STK11.
Genomic newborn screening: BabyScreen+ v0.1510 STK11 Seb Lunke reviewed gene: STK11: Rating: RED; Mode of pathogenicity: None; Publications: 20301443; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1510 STAT3 Seb Lunke Marked gene: STAT3 as ready
Genomic newborn screening: BabyScreen+ v0.1510 STAT3 Seb Lunke Gene: stat3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1510 STAT3 Seb Lunke Phenotypes for gene: STAT3 were changed from Hyper-IgE recurrent infection syndrome to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Genomic newborn screening: BabyScreen+ v0.1509 STAT3 Seb Lunke reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1509 STAR Seb Lunke Marked gene: STAR as ready
Genomic newborn screening: BabyScreen+ v0.1509 STAR Seb Lunke Gene: star has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1509 STAR Seb Lunke Phenotypes for gene: STAR were changed from Congenital lipoid adrenal hyperplasia, MIM#201710 to Congenital lipoid adrenal hyperplasia, MIM#201710
Genomic newborn screening: BabyScreen+ v0.1508 STAR Seb Lunke reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Marked gene: STAC3 as ready
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Gene: stac3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Classified gene: STAC3 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1508 STAC3 Seb Lunke Gene: stac3 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 STAC3 Seb Lunke reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1507 SRP54 Seb Lunke Marked gene: SRP54 as ready
Genomic newborn screening: BabyScreen+ v0.1507 SRP54 Seb Lunke Gene: srp54 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 SRP54 Seb Lunke reviewed gene: SRP54: Rating: ; Mode of pathogenicity: None; Publications: 20301722; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v0.1507 SRCAP Seb Lunke Marked gene: SRCAP as ready
Genomic newborn screening: BabyScreen+ v0.1507 SRCAP Seb Lunke Gene: srcap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1507 SRCAP Seb Lunke Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Genomic newborn screening: BabyScreen+ v0.1506 SRCAP Seb Lunke Classified gene: SRCAP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1506 SRCAP Seb Lunke Gene: srcap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1505 SRCAP Seb Lunke reviewed gene: SRCAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1505 SPTLC1 Seb Lunke Marked gene: SPTLC1 as ready
Genomic newborn screening: BabyScreen+ v0.1505 SPTLC1 Seb Lunke Gene: sptlc1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1505 SPTLC1 Seb Lunke Phenotypes for gene: SPTLC1 were changed from Neuropathy, hereditary sensory and autonomic, type IA to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400
Genomic newborn screening: BabyScreen+ v0.1504 SPTLC1 Seb Lunke Classified gene: SPTLC1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1504 SPTLC1 Seb Lunke Gene: sptlc1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1503 SPTLC1 Seb Lunke reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1503 PRX Zornitza Stark Marked gene: PRX as ready
Genomic newborn screening: BabyScreen+ v0.1503 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1503 PRX Zornitza Stark Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900
Genomic newborn screening: BabyScreen+ v0.1502 PRX Zornitza Stark Classified gene: PRX as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1502 PRX Zornitza Stark Gene: prx has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1501 PRX Zornitza Stark reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1501 PSAP Zornitza Stark Marked gene: PSAP as ready
Genomic newborn screening: BabyScreen+ v0.1501 PSAP Zornitza Stark Gene: psap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1501 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy to Parkinson disease; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Gaucher disease, atypical, MIM# 610539
Genomic newborn screening: BabyScreen+ v0.1500 PSAP Zornitza Stark Mode of inheritance for gene: PSAP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1499 PSAP Zornitza Stark Classified gene: PSAP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1499 PSAP Zornitza Stark Gene: psap has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1498 PSAP Zornitza Stark reviewed gene: PSAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, Gaucher disease, atypical, MIM# 610539; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 TMEM67 Lilian Rudd reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20232449 PMID: 26092869, PMID: 27336129; Phenotypes: COACH syndrome MIM#216360, Joubert syndrome MIM#10688, Meckel syndrome MIM#607361, Nephronophthisis MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 TMIE Lilian Rudd reviewed gene: TMIE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301607, PMID: 33987950; Phenotypes: Deafness, autosomal recessive 6 MIM#600971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 TMPRSS3 Lilian Rudd reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34868270; Phenotypes: deafness, autosomal recessive MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1498 PTCH1 Zornitza Stark Marked gene: PTCH1 as ready
Genomic newborn screening: BabyScreen+ v0.1498 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1498 PTCH1 Zornitza Stark Phenotypes for gene: PTCH1 were changed from Nevoid basal cell carcinoma syndrome to Basal cell nevus syndrome, MIM# 109400
Genomic newborn screening: BabyScreen+ v0.1497 PTCH1 Zornitza Stark Classified gene: PTCH1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.1497 PTCH1 Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.1496 PTCH1 Zornitza Stark Tag for review tag was added to gene: PTCH1.
Tag cancer tag was added to gene: PTCH1.
Genomic newborn screening: BabyScreen+ v0.1496 PTCH1 Zornitza Stark reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal cell nevus syndrome, MIM# 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1496 PTEN Zornitza Stark Marked gene: PTEN as ready
Genomic newborn screening: BabyScreen+ v0.1496 PTEN Zornitza Stark Gene: pten has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1496 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Cowden disease; Bannayan-Riley-Ruvalcaba syndrome to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309
Genomic newborn screening: BabyScreen+ v0.1495 PTEN Zornitza Stark Classified gene: PTEN as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.1495 PTEN Zornitza Stark Gene: pten has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTEN Zornitza Stark Tag for review tag was added to gene: PTEN.
Tag cancer tag was added to gene: PTEN.
Genomic newborn screening: BabyScreen+ v0.1494 PTEN Zornitza Stark reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Marked gene: PTF1A as ready
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Gene: ptf1a has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark Tag treatable tag was added to gene: PTF1A.
Tag gastrointestinal tag was added to gene: PTF1A.
Genomic newborn screening: BabyScreen+ v0.1494 PTF1A Zornitza Stark reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.1494 PTH1R Zornitza Stark Marked gene: PTH1R as ready
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