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BabyScreen+ newborn screening v0.759 PEX26 Zornitza Stark Marked gene: PEX26 as ready
BabyScreen+ newborn screening v0.759 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.759 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
BabyScreen+ newborn screening v0.758 PEX26 Zornitza Stark Classified gene: PEX26 as Red List (low evidence)
BabyScreen+ newborn screening v0.758 PEX26 Zornitza Stark Gene: pex26 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.757 PEX2 Zornitza Stark Marked gene: PEX2 as ready
BabyScreen+ newborn screening v0.757 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.757 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
BabyScreen+ newborn screening v0.756 PEX2 Zornitza Stark Classified gene: PEX2 as Red List (low evidence)
BabyScreen+ newborn screening v0.756 PEX2 Zornitza Stark Gene: pex2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.755 PEX13 Zornitza Stark Marked gene: PEX13 as ready
BabyScreen+ newborn screening v0.755 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.755 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
BabyScreen+ newborn screening v0.754 PEX13 Zornitza Stark Classified gene: PEX13 as Red List (low evidence)
BabyScreen+ newborn screening v0.754 PEX13 Zornitza Stark Gene: pex13 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.753 PEX12 Zornitza Stark Marked gene: PEX12 as ready
BabyScreen+ newborn screening v0.753 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.753 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
BabyScreen+ newborn screening v0.752 PEX12 Zornitza Stark Classified gene: PEX12 as Red List (low evidence)
BabyScreen+ newborn screening v0.752 PEX12 Zornitza Stark Gene: pex12 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.751 PEX10 Zornitza Stark Marked gene: PEX10 as ready
BabyScreen+ newborn screening v0.751 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.751 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
BabyScreen+ newborn screening v0.750 PEX10 Zornitza Stark Classified gene: PEX10 as Red List (low evidence)
BabyScreen+ newborn screening v0.750 PEX10 Zornitza Stark Gene: pex10 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.749 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
BabyScreen+ newborn screening v0.749 PCBD1 Zornitza Stark Tag for review tag was added to gene: PCBD1.
BabyScreen+ newborn screening v0.749 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Classified gene: GNPTAB as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.749 PAX6 Zornitza Stark Marked gene: PAX6 as ready
BabyScreen+ newborn screening v0.749 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.749 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia to Aniridia, OMIM 106210
BabyScreen+ newborn screening v0.748 PAX6 Zornitza Stark Classified gene: PAX6 as Red List (low evidence)
BabyScreen+ newborn screening v0.748 PAX6 Zornitza Stark Gene: pax6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.747 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
BabyScreen+ newborn screening v0.747 PAX6 Zornitza Stark Tag for review tag was added to gene: PAX6.
BabyScreen+ newborn screening v0.747 PAX3 Zornitza Stark Marked gene: PAX3 as ready
BabyScreen+ newborn screening v0.747 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.747 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 1, OMIM 193500
BabyScreen+ newborn screening v0.746 PANK2 Zornitza Stark Marked gene: PANK2 as ready
BabyScreen+ newborn screening v0.746 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.746 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
BabyScreen+ newborn screening v0.745 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
BabyScreen+ newborn screening v0.745 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.744 PALB2 Zornitza Stark Tag for review tag was added to gene: PALB2.
BabyScreen+ newborn screening v0.744 PAK3 Zornitza Stark Marked gene: PAK3 as ready
BabyScreen+ newborn screening v0.744 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.744 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation syndrome, X-linked to Mental retardation syndrome, X-linked 30, MIM#300558
BabyScreen+ newborn screening v0.743 PAK3 Zornitza Stark Classified gene: PAK3 as Red List (low evidence)
BabyScreen+ newborn screening v0.743 PAK3 Zornitza Stark Gene: pak3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.742 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
BabyScreen+ newborn screening v0.742 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.742 P2RY12 Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.741 P2RY12 Zornitza Stark Classified gene: P2RY12 as Red List (low evidence)
BabyScreen+ newborn screening v0.741 P2RY12 Zornitza Stark Gene: p2ry12 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.740 PEX1 Zornitza Stark Marked gene: PEX1 as ready
BabyScreen+ newborn screening v0.740 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.740 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
BabyScreen+ newborn screening v0.739 PEX1 Zornitza Stark Classified gene: PEX1 as Red List (low evidence)
BabyScreen+ newborn screening v0.739 PEX1 Zornitza Stark Gene: pex1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.738 PDHX Zornitza Stark Marked gene: PDHX as ready
BabyScreen+ newborn screening v0.738 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.738 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from Pyruvate dehydrogenase complex deficiency to Lactic acidaemia due to PDX1 deficiency, MIM# 245349
BabyScreen+ newborn screening v0.737 PDHX Zornitza Stark Publications for gene: PDHX were set to
BabyScreen+ newborn screening v0.736 PDHX Zornitza Stark reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency, MIM# 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.736 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
BabyScreen+ newborn screening v0.736 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.736 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase deficiency to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
BabyScreen+ newborn screening v0.735 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.734 PDHA1 Zornitza Stark commented on gene: PDHA1: To be reported in females.
BabyScreen+ newborn screening v0.734 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.734 PC Zornitza Stark Marked gene: PC as ready
BabyScreen+ newborn screening v0.734 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.734 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, MIM# 266150
BabyScreen+ newborn screening v0.733 PC Zornitza Stark Publications for gene: PC were set to
BabyScreen+ newborn screening v0.732 PC Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.732 PAX8 Zornitza Stark Marked gene: PAX8 as ready
BabyScreen+ newborn screening v0.732 PAX8 Zornitza Stark Gene: pax8 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.732 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700
BabyScreen+ newborn screening v0.731 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
BabyScreen+ newborn screening v0.730 NPC2 Zornitza Stark Tag for review tag was added to gene: NPC2.
Callosome v0.485 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Callosome v0.485 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Callosome v0.485 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Callosome v0.484 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Callosome v0.484 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.730 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.730 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.729 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Red List (low evidence)
BabyScreen+ newborn screening v0.729 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.728 CYP27A1 Zornitza Stark Tag for review was removed from gene: CYP27A1.
BabyScreen+ newborn screening v0.728 CLN6 Zornitza Stark Tag for review was removed from gene: CLN6.
BabyScreen+ newborn screening v0.728 CLN5 Zornitza Stark Tag for review was removed from gene: CLN5.
BabyScreen+ newborn screening v0.728 CLN3 Zornitza Stark Tag for review was removed from gene: CLN3.
BabyScreen+ newborn screening v0.728 ADAR Zornitza Stark commented on gene: ADAR: To be discussed further with neurology.
BabyScreen+ newborn screening v0.728 UROD John Christodoulou reviewed gene: UROD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24175354; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.728 VHL Zornitza Stark Publications for gene: VHL were set to 20301636; 33945366; 34613603
BabyScreen+ newborn screening v0.727 VHL Zornitza Stark Tag for review was removed from gene: VHL.
Tag treatable tag was added to gene: VHL.
BabyScreen+ newborn screening v0.727 VHL Zornitza Stark edited their review of gene: VHL: Changed publications: 28620007
BabyScreen+ newborn screening v0.727 VHL Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.727 UROD Zornitza Stark Marked gene: UROD as ready
BabyScreen+ newborn screening v0.727 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.727 UROD Zornitza Stark Phenotypes for gene: UROD were changed from Porphyria, hepatoerythropoietic to Porphyria, hepatoerythropoietic MIM#176100
BabyScreen+ newborn screening v0.726 UROD Zornitza Stark Publications for gene: UROD were set to
BabyScreen+ newborn screening v0.725 UROD Zornitza Stark Tag for review was removed from gene: UROD.
BabyScreen+ newborn screening v0.725 UROD Zornitza Stark reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.725 SI Zornitza Stark Tag for review was removed from gene: SI.
BabyScreen+ newborn screening v0.725 SFTPC Zornitza Stark Classified gene: SFTPC as Red List (low evidence)
BabyScreen+ newborn screening v0.725 SFTPC Zornitza Stark Gene: sftpc has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.724 SFTPC Zornitza Stark Tag for review was removed from gene: SFTPC.
BabyScreen+ newborn screening v0.724 SCN3A Zornitza Stark Classified gene: SCN3A as Red List (low evidence)
BabyScreen+ newborn screening v0.724 SCN3A Zornitza Stark Gene: scn3a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.723 SCN3A Zornitza Stark Tag for review was removed from gene: SCN3A.
Tag treatable was removed from gene: SCN3A.
BabyScreen+ newborn screening v0.723 SCN3A Zornitza Stark reviewed gene: SCN3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.723 SCN2A Zornitza Stark Classified gene: SCN2A as Red List (low evidence)
BabyScreen+ newborn screening v0.723 SCN2A Zornitza Stark Gene: scn2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.722 SCN2A Zornitza Stark Tag for review was removed from gene: SCN2A.
Tag treatable was removed from gene: SCN2A.
BabyScreen+ newborn screening v0.722 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.722 SCN1A Zornitza Stark Classified gene: SCN1A as Red List (low evidence)
BabyScreen+ newborn screening v0.722 SCN1A Zornitza Stark Gene: scn1a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.721 SCN1A Zornitza Stark Tag for review was removed from gene: SCN1A.
Tag treatable was removed from gene: SCN1A.
BabyScreen+ newborn screening v0.721 SCN1A Zornitza Stark reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.721 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
BabyScreen+ newborn screening v0.721 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

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

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

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

Panel review: screen for bi-allelic disease only.
BabyScreen+ newborn screening v0.721 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821 to Deafness, autosomal recessive 37, MIM# 607821
BabyScreen+ newborn screening v0.720 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.432 SFTPA1 Zornitza Stark Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177
Mendeliome v1.431 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Green List (high evidence)
Mendeliome v1.431 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Green List (High Evidence).
Mendeliome v1.430 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Added comment: Additional 3 families reported with mono-allelic variants.; Changed rating: GREEN; Changed publications: 31601679, 30854216, 28869238, 26792177, 32855221
Pulmonary Fibrosis_Interstitial Lung Disease v0.47 SFTPA1 Zornitza Stark Publications for gene: SFTPA1 were set to 31601679; 30854216; 28869238; 26792177
Pulmonary Fibrosis_Interstitial Lung Disease v0.46 SFTPA1 Zornitza Stark Classified gene: SFTPA1 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.46 SFTPA1 Zornitza Stark Gene: sftpa1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.163 GNPTAB Krithika Murali gene: GNPTAB was added
gene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 20301728
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500
Review for gene: GNPTAB was set to GREEN
Added comment: ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies.
Sources: Literature
Mendeliome v1.430 GNPNAT1 Krithika Murali reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.226 GNPNAT1 Krithika Murali reviewed gene: GNPNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36097642, 35427807; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.163 GNPNAT1 Krithika Murali gene: GNPNAT1 was added
gene: GNPNAT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Review for gene: GNPNAT1 was set to AMBER
Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.45 SFTPA1 Tiong Tan reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32855221; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PAX6 David Amor reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aniridia, OMIM 106210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.719 PAX3 David Amor reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 1, OMIM 193500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.719 PANK2 David Amor reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PALB2 David Amor reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group N, OMIM 610832 (AR), Breast cancer, susceptibility to (OMIM 114480) (AD); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PAK3 David Amor reviewed gene: PAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300558, Intellectual developmental disorder, X-linked 30; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.719 P2RY12 David Amor reviewed gene: P2RY12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 609821, Bleeding disorder, platelet-type, 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PHYH John Christodoulou reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa with night blindness, cataracts, polyneuropathy including sensory disturbances, cerebellar ataxia, anosmia, progressive hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PHKG2 John Christodoulou reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246, https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: hepatomegaly, hypotonia, growth retardation, hypoglycaemia, fasting ketosis, cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PHKB John Christodoulou reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Summary; Phenotypes: marked hepatomegaly, hypoglycaemia, short stature, fasting ketosis, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PHKA2 John Christodoulou reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30659246; Phenotypes: hepatomegaly, short stature, liver dysfunction, hypoglycaemia, hyperuricaemia, hyperlipidemia, fasting ketosis, mild motor delay; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.719 PHGDH John Christodoulou reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: growth retardation, congenital microcephaly, hypogonadism, hypertonia, severe ID, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PGM1 John Christodoulou reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32681750; Phenotypes: cleft lip, bifid uvula, hepatopathy, intermittent hypoglycemia, short stature, exercise intolerance, increased serum creatine kinase, rhabdomyolysis, dilated cardiomyopathy, hypogonadotropic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PFKM John Christodoulou reviewed gene: PFKM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 7550225; Phenotypes: rhabdomyolysis, myopathy, exercise intolerance, gout, haemolysis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX7 John Christodoulou reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX6 John Christodoulou reviewed gene: PEX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX5 John Christodoulou reviewed gene: PEX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX3 John Christodoulou reviewed gene: PEX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX26 John Christodoulou reviewed gene: PEX26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX2 John Christodoulou reviewed gene: PEX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX13 John Christodoulou reviewed gene: PEX13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX12 John Christodoulou reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX10 John Christodoulou reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PEX1 John Christodoulou reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PDHX John Christodoulou reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20002125, PMID: 33092611; Phenotypes: ID, hypotonia, lactic acidosis, seizures, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PDHA1 John Christodoulou reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: lactic acidosis, porencephaly, ID, seizures, dystonia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.719 PC John Christodoulou reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301764; Phenotypes: lactic acidosis, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 PAX8 John Christodoulou reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.719 OXCT1 John Christodoulou reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594, PMID: 20652411; Phenotypes: ketoacidosis, hypoglycaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 OTC John Christodoulou reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperammonaemia, encephalopathy, liver failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.719 NPC2 John Christodoulou reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: cholestatic jaundice in infancy, gaze palsy, ID, dystonia, progressive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 NPC1 John Christodoulou reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 MPI John Christodoulou reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32266963, PMID: 19101627; Phenotypes: hyperinsulinism, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 MLYCD John Christodoulou reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28781843, PMID: 20549361; Phenotypes: hypoglycaemia, metabolic acidosis, cardiomyopathy, ID, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.719 MAN2B1 John Christodoulou reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31222755, PMID: 31241255; Phenotypes: ID, coarse facial features, deafness, dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.483 MYCBP2 Suliman Khan changed review comment from: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature; to: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Callosome v0.483 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
BabyScreen+ newborn screening v0.719 SLC17A5 Seb Lunke Marked gene: SLC17A5 as ready
BabyScreen+ newborn screening v0.719 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.719 SLC17A5 Seb Lunke Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile to Sialic acid storage disorder, infantile, MIM# 269920
BabyScreen+ newborn screening v0.718 SLC17A5 Seb Lunke Classified gene: SLC17A5 as Red List (low evidence)
BabyScreen+ newborn screening v0.718 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.717 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.717 SLC16A2 Seb Lunke Marked gene: SLC16A2 as ready
BabyScreen+ newborn screening v0.717 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.717 SLC16A2 Seb Lunke Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM# 300523
BabyScreen+ newborn screening v0.716 SLC16A2 Seb Lunke Classified gene: SLC16A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.716 SLC16A2 Seb Lunke Added comment: Comment on list classification: Not eligible now but have to check back on trial later
BabyScreen+ newborn screening v0.716 SLC16A2 Seb Lunke Gene: slc16a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.715 SLC16A2 Seb Lunke Tag clinical trial tag was added to gene: SLC16A2.
BabyScreen+ newborn screening v0.715 SLC16A2 Seb Lunke reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.715 SLC12A6 Seb Lunke Marked gene: SLC12A6 as ready
BabyScreen+ newborn screening v0.715 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.715 SLC12A6 Seb Lunke Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy to Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800
BabyScreen+ newborn screening v0.714 SLC12A6 Seb Lunke Classified gene: SLC12A6 as Red List (low evidence)
BabyScreen+ newborn screening v0.714 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.713 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.713 SLC12A3 Seb Lunke Marked gene: SLC12A3 as ready
BabyScreen+ newborn screening v0.713 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.713 SLC12A3 Seb Lunke Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome to Gitelman syndrome, MIM# 263800
BabyScreen+ newborn screening v0.712 SLC12A3 Seb Lunke Classified gene: SLC12A3 as Red List (low evidence)
BabyScreen+ newborn screening v0.712 SLC12A3 Seb Lunke Gene: slc12a3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.711 SLC12A3 Seb Lunke Tag for review tag was added to gene: SLC12A3.
BabyScreen+ newborn screening v0.711 SLC12A3 Seb Lunke reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.711 SLC12A1 Seb Lunke Marked gene: SLC12A1 as ready
BabyScreen+ newborn screening v0.711 SLC12A1 Seb Lunke Gene: slc12a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.711 SLC12A1 Seb Lunke Phenotypes for gene: SLC12A1 were changed from Bartter syndrome to Bartter syndrome, type 1, MIM# 601678
BabyScreen+ newborn screening v0.710 SLC12A1 Seb Lunke reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.710 SKI Seb Lunke Marked gene: SKI as ready
BabyScreen+ newborn screening v0.710 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.710 SKI Seb Lunke Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, MIM#182212
BabyScreen+ newborn screening v0.709 SKI Seb Lunke Classified gene: SKI as Red List (low evidence)
BabyScreen+ newborn screening v0.709 SKI Seb Lunke Gene: ski has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.708 SKI Seb Lunke reviewed gene: SKI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.708 SIX3 Seb Lunke Marked gene: SIX3 as ready
BabyScreen+ newborn screening v0.708 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.708 SIX3 Seb Lunke Phenotypes for gene: SIX3 were changed from Holoprosencephaly-2 to Holoprosencephaly 2, MIM# 157170
BabyScreen+ newborn screening v0.707 SIX3 Seb Lunke Classified gene: SIX3 as Red List (low evidence)
BabyScreen+ newborn screening v0.707 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.706 SIX3 Seb Lunke reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.706 SIX1 Seb Lunke Marked gene: SIX1 as ready
BabyScreen+ newborn screening v0.706 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.706 SIX1 Seb Lunke Phenotypes for gene: SIX1 were changed from Branchiootorenal syndrome to Branchiootic syndrome 3, MIM# 608389
BabyScreen+ newborn screening v0.705 SIX1 Seb Lunke Classified gene: SIX1 as Red List (low evidence)
BabyScreen+ newborn screening v0.705 SIX1 Seb Lunke Gene: six1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.704 SIX1 Seb Lunke reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.704 SIL1 Seb Lunke Marked gene: SIL1 as ready
BabyScreen+ newborn screening v0.704 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.704 SIL1 Seb Lunke Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, MIM#248800
BabyScreen+ newborn screening v0.703 SIL1 Seb Lunke Classified gene: SIL1 as Red List (low evidence)
BabyScreen+ newborn screening v0.703 SIL1 Seb Lunke Gene: sil1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.702 SIL1 Seb Lunke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.702 SI Seb Lunke Marked gene: SI as ready
BabyScreen+ newborn screening v0.702 SI Seb Lunke Gene: si has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.702 SI Seb Lunke Tag for review tag was added to gene: SI.
BabyScreen+ newborn screening v0.702 SI Seb Lunke reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.702 SHH Seb Lunke Marked gene: SHH as ready
BabyScreen+ newborn screening v0.702 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.702 SHH Seb Lunke Phenotypes for gene: SHH were changed from Holoprosencephaly-3 to Holoprosencephaly 3, MIM#142945
BabyScreen+ newborn screening v0.701 SHH Seb Lunke Classified gene: SHH as Red List (low evidence)
BabyScreen+ newborn screening v0.701 SHH Seb Lunke Gene: shh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.700 SHH Seb Lunke reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 3, MIM#142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Marked gene: SHANK3 as ready
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Classified gene: SHANK3 as Red List (low evidence)
BabyScreen+ newborn screening v0.700 SHANK3 Seb Lunke Gene: shank3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.699 SHANK3 Seb Lunke reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.699 SH3TC2 Seb Lunke Marked gene: SH3TC2 as ready
BabyScreen+ newborn screening v0.699 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.699 SH3TC2 Seb Lunke Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4C MIM#601596
BabyScreen+ newborn screening v0.698 SH3TC2 Seb Lunke Classified gene: SH3TC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.698 SH3TC2 Seb Lunke Gene: sh3tc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.697 SH3TC2 Seb Lunke reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.430 SCNM1 Zornitza Stark Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107
Polydactyly v0.262 SCNM1 Zornitza Stark Marked gene: SCNM1 as ready
Polydactyly v0.262 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Polydactyly v0.262 SCNM1 Zornitza Stark Classified gene: SCNM1 as Green List (high evidence)
Polydactyly v0.262 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Mendeliome v1.429 SCNM1 Zornitza Stark reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.261 SCNM1 Zornitza Stark gene: SCNM1 was added
gene: SCNM1 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to 36084634
Phenotypes for gene: SCNM1 were set to Orofaciodigital syndrome XIX, MIM# 620107
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous - the missense variant was shown to have a splice outcome
Sources: Literature
Ciliopathies v1.37 SCNM1 Zornitza Stark Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107
Ciliopathies v1.36 SCNM1 Zornitza Stark reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v1.2 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Ataxia - paediatric v1.1 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Intellectual disability syndromic and non-syndromic v0.5008 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Intellectual disability syndromic and non-syndromic v0.5007 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Genetic Epilepsy v0.1795 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Genetic Epilepsy v0.1794 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Mendeliome v1.429 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Mendeliome v1.428 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094
Pneumothorax v0.11 Bryony Thompson Panel status changed from internal to public
Pneumothorax v0.10 CFTR Bryony Thompson Marked gene: CFTR as ready
Pneumothorax v0.10 CFTR Bryony Thompson Gene: cftr has been classified as Green List (High Evidence).
Pneumothorax v0.10 CFTR Bryony Thompson Classified gene: CFTR as Green List (high evidence)
Pneumothorax v0.10 CFTR Bryony Thompson Gene: cftr has been classified as Green List (High Evidence).
Pneumothorax v0.9 CFTR Bryony Thompson gene: CFTR was added
gene: CFTR was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFTR were set to 30681372; 17056865; 16100160; 2919902
Phenotypes for gene: CFTR were set to Cystic fibrosis MONDO:0009061
Review for gene: CFTR was set to GREEN
gene: CFTR was marked as current diagnostic
Added comment: Has been reported as one of the lung finds of CF. The incidence of pneumothorax among patients with CF has been reported as ~2% in children and ~3% in all ages.
Sources: Expert list
Pneumothorax v0.8 FBLN5 Bryony Thompson Marked gene: FBLN5 as ready
Pneumothorax v0.8 FBLN5 Bryony Thompson Gene: fbln5 has been classified as Red List (Low Evidence).
Pneumothorax v0.8 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBLN5 were set to 21152794; 30681372
Phenotypes for gene: FBLN5 were set to cutis laxa MONDO:0016175
Review for gene: FBLN5 was set to RED
Added comment: Spontaneous pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single cutis laxa case with biallelic variants and a previous history of spontaneous pneumothorax has been reported.
Sources: Other
Pneumothorax v0.7 LTBP4 Bryony Thompson Marked gene: LTBP4 as ready
Pneumothorax v0.7 LTBP4 Bryony Thompson Gene: ltbp4 has been classified as Red List (Low Evidence).
Pneumothorax v0.7 LTBP4 Bryony Thompson gene: LTBP4 was added
gene: LTBP4 was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP4 were set to 30681372; 35921570
Phenotypes for gene: LTBP4 were set to Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170
Review for gene: LTBP4 was set to RED
Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single case of pneumothorax in a family with ARCL and biallelic variants has been reported in the literature.
Sources: Other
Skeletal Dysplasia_Fetal v0.163 FZD2 Krithika Murali gene: FZD2 was added
gene: FZD2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD2 were set to 25759469, 30455931, 29383834, 29230162,
Phenotypes for gene: FZD2 were set to Omodysplasia 2, OMIM #164745
Review for gene: FZD2 was set to GREEN
Added comment: Previous review by Chirag Patel Fetal anomalies panel 13.1.22

---

Skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. Overlaps with AD Robinow syndrome. Some detected antenatally with shortened humeri and abnormal genitalia. Suitable for fetal anomalies panel.
Sources: Literature
Pneumothorax v0.6 ELN Bryony Thompson Marked gene: ELN as ready
Pneumothorax v0.6 ELN Bryony Thompson Gene: eln has been classified as Red List (Low Evidence).
Pneumothorax v0.6 ELN Bryony Thompson gene: ELN was added
gene: ELN was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELN were set to 30416599; 30681372
Phenotypes for gene: ELN were set to cutis laxa, autosomal dominant 1 MONDO:0007411
Mode of pathogenicity for gene: ELN was set to Other
Review for gene: ELN was set to RED
Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as presenting feature. A single case was reported with the presentation of bilateral pneumothorax and mentioned a genetic diagnosis of ADCL, which implies an ELN pathogenic variant.
Sources: Other
Skeletal Dysplasia_Fetal v0.163 FIG4 Krithika Murali gene: FIG4 was added
gene: FIG4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 31094135; 24088667; 23623387
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340
Review for gene: FIG4 was set to GREEN
Added comment: Biallelic FIG4 variants are associated with an allelic disorder - Yunis-Varon syndrome - phenotypic skeletal dysplasia features include severe prenatal growth restriction, absent halluces and congenital fractures.
Sources: Literature
Pneumothorax v0.5 CBS Bryony Thompson Marked gene: CBS as ready
Pneumothorax v0.5 CBS Bryony Thompson Gene: cbs has been classified as Amber List (Moderate Evidence).
Pneumothorax v0.5 CBS Bryony Thompson Classified gene: CBS as Amber List (moderate evidence)
Pneumothorax v0.5 CBS Bryony Thompson Gene: cbs has been classified as Amber List (Moderate Evidence).
Pneumothorax v0.4 CBS Bryony Thompson gene: CBS was added
gene: CBS was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 2333882; 27229674; 9427154; 30681372
Phenotypes for gene: CBS were set to Classic homocystinuria MONDO:0009352
Review for gene: CBS was set to AMBER
Added comment: The prevalence of spontaneous pneumothorax as a feature of homocystinuria is unknown. It appears to be very rare. There are 3 unrelated patients reported in the literature, one presented with spontaneous pneumothorax.
Sources: Expert list
BabyScreen+ newborn screening v0.697 SH2D1A Seb Lunke Marked gene: SH2D1A as ready
BabyScreen+ newborn screening v0.697 SH2D1A Seb Lunke Gene: sh2d1a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.697 SH2D1A Seb Lunke Phenotypes for gene: SH2D1A were changed from Lymphoproliferative syndrome, MIM#308240 to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
BabyScreen+ newborn screening v0.696 SH2D1A Seb Lunke Publications for gene: SH2D1A were set to
BabyScreen+ newborn screening v0.695 SH2D1A Seb Lunke reviewed gene: SH2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301580; Phenotypes: Lymphoproliferative syndrome, X-linked, 1, MIM# 308240; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.695 SGSH Seb Lunke Marked gene: SGSH as ready
BabyScreen+ newborn screening v0.695 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.695 SGSH Seb Lunke Phenotypes for gene: SGSH were changed from Mucopolysaccharidisis type IIIA (Sanfilippo A) to Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
BabyScreen+ newborn screening v0.694 SGSH Seb Lunke Classified gene: SGSH as Red List (low evidence)
BabyScreen+ newborn screening v0.694 SGSH Seb Lunke Gene: sgsh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.693 SGSH Seb Lunke reviewed gene: SGSH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.693 SGCB Seb Lunke Marked gene: SGCB as ready
BabyScreen+ newborn screening v0.693 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.693 SGCG Seb Lunke Marked gene: SGCG as ready
BabyScreen+ newborn screening v0.693 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.693 SGCB Seb Lunke Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
BabyScreen+ newborn screening v0.692 SGCD Seb Lunke Marked gene: SGCD as ready
BabyScreen+ newborn screening v0.692 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.692 SGCG Seb Lunke Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, type 2C to Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
BabyScreen+ newborn screening v0.691 SGCB Seb Lunke Classified gene: SGCB as Red List (low evidence)
BabyScreen+ newborn screening v0.691 SGCB Seb Lunke Gene: sgcb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.690 SGCD Seb Lunke Classified gene: SGCD as Red List (low evidence)
BabyScreen+ newborn screening v0.690 SGCD Seb Lunke Gene: sgcd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.689 SGCG Seb Lunke Classified gene: SGCG as Red List (low evidence)
BabyScreen+ newborn screening v0.689 SGCG Seb Lunke Gene: sgcg has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.688 SGCG Seb Lunke reviewed gene: SGCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.688 SGCD Seb Lunke reviewed gene: SGCD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.688 SGCB Seb Lunke reviewed gene: SGCB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.688 SGCA Seb Lunke Marked gene: SGCA as ready
BabyScreen+ newborn screening v0.688 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.688 SGCA Seb Lunke Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
BabyScreen+ newborn screening v0.687 SGCA Seb Lunke Classified gene: SGCA as Red List (low evidence)
BabyScreen+ newborn screening v0.687 SGCA Seb Lunke Gene: sgca has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.686 SGCA Seb Lunke reviewed gene: SGCA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Skeletal Dysplasia_Fetal v0.162 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Skeletal Dysplasia_Fetal v0.161 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271
Skeletal Dysplasia_Fetal v0.159 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Skeletal Dysplasia_Fetal v0.158 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.163 SOCS1 Zornitza Stark Publications for gene: SOCS1 were set to 33087723
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
Skeletal Dysplasia_Fetal v0.156 FGFR1 Zornitza Stark Classified gene: FGFR1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.156 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Mendeliome v1.428 FGL2 Zornitza Stark Marked gene: FGL2 as ready
Mendeliome v1.428 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.428 FGL2 Zornitza Stark Classified gene: FGL2 as Amber List (moderate evidence)
Mendeliome v1.428 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.427 FGL2 Zornitza Stark gene: FGL2 was added
gene: FGL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGL2 were set to 36243222
Phenotypes for gene: FGL2 were set to Autoinflammatory syndrome, MONDO:0019751, FGL2-related
Review for gene: FGL2 was set to AMBER
Added comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis. Homozygous truncating variant, functional studies include rescue experiments.
Sources: Literature
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Marked gene: FGL2 as ready
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.162 FGL2 Zornitza Stark Phenotypes for gene: FGL2 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, FGL2-related
Disorders of immune dysregulation v0.161 FGL2 Zornitza Stark Classified gene: FGL2 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.161 FGL2 Zornitza Stark Gene: fgl2 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark commented on gene: FGL2: Homozygous truncating variant, functional studies include rescue experiments.
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark edited their review of gene: FGL2: Changed rating: AMBER
Disorders of immune dysregulation v0.160 FGL2 Zornitza Stark reviewed gene: FGL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, FGL2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pneumothorax v0.3 Zornitza Stark List of related panels changed from to Pneumothorax; HP:0002107
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.160 SOCS1 Peter McNaughton reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35976468; Phenotypes: Early onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali Deleted their comment
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali edited their review of gene: FGFR1: Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.; Changed publications: PMID: 16470795, PMID: 15625620, PMID: 29147600, PMID: 20339250
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali changed review comment from: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature; to: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali gene: FGFR1 was added
gene: FGFR1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia-MIM#166250
Review for gene: FGFR1 was set to GREEN
Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature
Disorders of immune dysregulation v0.160 FGL2 Peter McNaughton gene: FGL2 was added
gene: FGL2 was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: FGL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGL2 were set to PMID: 36243222
Phenotypes for gene: FGL2 were set to Immune dysregulation
Review for gene: FGL2 was set to RED
Added comment: Child with early onset systemic inflammation, autoantibodies, and vasculitis with supportive functional data
Sources: Literature
Pneumothorax v0.1 Bryony Thompson HPO terms changed from to Pneumothorax, HP:0002107
Panel types changed to Royal Melbourne Hospital; Rare Disease
Pneumothorax v0.0 SMAD3 Bryony Thompson gene: SMAD3 was added
gene: SMAD3 was added to Pneumothorax. Sources: Expert list,Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: SMAD3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax v0.0 SMAD2 Bryony Thompson gene: SMAD2 was added
gene: SMAD2 was added to Pneumothorax. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome,MONDO:0018954
Mode of pathogenicity for gene: SMAD2 was set to Other
Pneumothorax v0.0 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC2 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001
Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pneumothorax v0.0 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC1 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, OMIM:191100; Lymphangioleiomyomatosis, OMIM:606690
Pneumothorax v0.0 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR2 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: TGFBR2 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax v0.0 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884
Phenotypes for gene: TGFBR1 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax v0.0 TGFB3 Bryony Thompson gene: TGFB3 was added
gene: TGFB3 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884
Phenotypes for gene: TGFB3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pneumothorax v0.0 TGFB2 Bryony Thompson gene: TGFB2 was added
gene: TGFB2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB2 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, OMIM:614816; Pulmonary emphysema, MONDO:0004849
Pneumothorax v0.0 SERPINA1 Bryony Thompson gene: SERPINA1 was added
gene: SERPINA1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA1 were set to 27229674; 22215832; 18619132; 22544422
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490; Emphysema due to AAT deficiency, OMIM:613490
Pneumothorax v0.0 FLCN Bryony Thompson gene: FLCN was added
gene: FLCN was added to Pneumothorax. Sources: Literature,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,NHS GMS,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 19483054; 15852235; 26928018; 15657874; 21550484; 15805188; 12204536
Phenotypes for gene: FLCN were set to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Pneumothorax. Sources: Eligibility statement prior genetic testing,Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN1 were set to 12598898; 1864149; 11786720; 2595640; 15161620; 25765122
Phenotypes for gene: FBN1 were set to Marfan syndrome, OMIM:154700
Pneumothorax v0.0 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL3A1 were set to 25940258; 9147885; 7369469; 26666608
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Pneumothorax v0.0 Bryony Thompson Added panel Pneumothorax
Amelogenesis imperfecta v1.5 SP6 Zornitza Stark Phenotypes for gene: SP6 were changed from Amelogenesis Imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104
Amelogenesis imperfecta v1.4 SP6 Zornitza Stark edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104
Mendeliome v1.426 SP6 Zornitza Stark Phenotypes for gene: SP6 were changed from hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IK, MIM# 620104
Mendeliome v1.425 SP6 Zornitza Stark edited their review of gene: SP6: Changed phenotypes: Amelogenesis imperfecta, type IK, MIM# 620104
Mendeliome v1.425 FKBP6 Zornitza Stark Phenotypes for gene: FKBP6 were changed from Spermatogenic failure (MONDO:0004983), FKBP6-related to Spermatogenic failure 77, MIM# 620103
Mendeliome v1.424 FKBP6 Zornitza Stark reviewed gene: FKBP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 77, MIM# 620103; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.154 EXTL3 Krithika Murali gene: EXTL3 was added
gene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to PMID: 28132690
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425
Review for gene: EXTL3 was set to GREEN
Added comment: Disproportionate short stature with limb shortening and death in the neonatal period reported.
Sources: Literature
Congenital Myasthenia v1.10 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
Mendeliome v1.424 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
BabyScreen+ newborn screening v0.686 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
BabyScreen+ newborn screening v0.686 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.686 COL13A1 Zornitza Stark Tag treatable tag was added to gene: COL13A1.
BabyScreen+ newborn screening v0.686 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.686 COL11A2 Zornitza Stark Classified gene: COL11A2 as Green List (high evidence)
BabyScreen+ newborn screening v0.686 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.685 COL11A2 Zornitza Stark edited their review of gene: COL11A2: Changed rating: GREEN
BabyScreen+ newborn screening v0.685 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
BabyScreen+ newborn screening v0.685 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.685 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Otospondylomegaepiphyseal dysplasia to Deafness, autosomal recessive 53, MIM# 609706
BabyScreen+ newborn screening v0.684 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.683 COL11A2 Zornitza Stark Classified gene: COL11A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.683 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.682 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 53, MIM# 609706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.682 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
BabyScreen+ newborn screening v0.682 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.682 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841
BabyScreen+ newborn screening v0.681 COL11A1 Zornitza Stark Tag for review tag was added to gene: COL11A1.
BabyScreen+ newborn screening v0.681 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.681 COG5 Zornitza Stark Marked gene: COG5 as ready
BabyScreen+ newborn screening v0.681 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.681 COG5 Zornitza Stark Phenotypes for gene: COG5 were changed from Congenital disorder of glycosylation, type IIi to Congenital disorder of glycosylation, type IIi, MIM# 613612
BabyScreen+ newborn screening v0.680 COG5 Zornitza Stark Classified gene: COG5 as Red List (low evidence)
BabyScreen+ newborn screening v0.680 COG5 Zornitza Stark Gene: cog5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.679 COG5 Zornitza Stark reviewed gene: COG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TMC6 Peter McNaughton reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12426567, PMID 15042430; Phenotypes: Epidermodysplasia veruciformis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TLR3 Peter McNaughton reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17872438, PMID: 25339207; Phenotypes: Susceptibility to viral disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TICAM1 Peter McNaughton reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22105173, 26513235; Phenotypes: Herpes encephalitis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 TBK1 Peter McNaughton reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34363755, PMID: 22851595; Phenotypes: Autoinflammation, susceptibility to HSV; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 STAT2 Peter McNaughton reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34448086; Phenotypes: Susceptibility to viral disease, interferonopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.126 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, Immunodeficiency 31C, autosomal dominant, MIM# 614162, Predisposition to Mucocutaneous Candidiasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 TMC8 Peter McNaughton reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34459021, 28646613, 12426567; Phenotypes: Epidermodysplasia verruciformis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 TMC6 Peter McNaughton reviewed gene: TMC6: Rating: ; Mode of pathogenicity: None; Publications: PMID: 12426567, PMID 15042430; Phenotypes: Epidermodysplasia veruciformis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.106 CXCR4 Peter McNaughton reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Marked gene: TLR3 as ready
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Gene: tlr3 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.106 TLR3 Zornitza Stark Phenotypes for gene: TLR3 were changed from to {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002
Susceptibility to Viral Infections v0.105 TLR3 Zornitza Stark Publications for gene: TLR3 were set to
Susceptibility to Viral Infections v0.104 TLR3 Zornitza Stark Mode of inheritance for gene: TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.103 TLR3 Zornitza Stark reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.679 OXCT1 Zornitza Stark Marked gene: OXCT1 as ready
BabyScreen+ newborn screening v0.679 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.679 OXCT1 Zornitza Stark Tag treatable tag was added to gene: OXCT1.
BabyScreen+ newborn screening v0.679 OTOGL Zornitza Stark Marked gene: OTOGL as ready
BabyScreen+ newborn screening v0.679 OTOGL Zornitza Stark Gene: otogl has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.679 OTOGL Zornitza Stark Phenotypes for gene: OTOGL were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 84B, MIM# 614944
BabyScreen+ newborn screening v0.678 OTOGL Zornitza Stark Tag for review tag was added to gene: OTOGL.
BabyScreen+ newborn screening v0.678 OTOGL Zornitza Stark reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 84B, MIM# 614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.678 OTOF Zornitza Stark Marked gene: OTOF as ready
BabyScreen+ newborn screening v0.678 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.678 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 9, MIM#601071
BabyScreen+ newborn screening v0.677 OTOA Zornitza Stark Marked gene: OTOA as ready
BabyScreen+ newborn screening v0.677 OTOA Zornitza Stark Gene: otoa has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.677 OTOA Zornitza Stark Phenotypes for gene: OTOA were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 22, MIM#607039
BabyScreen+ newborn screening v0.676 OTOA Zornitza Stark Tag SV/CNV tag was added to gene: OTOA.
Intellectual disability syndromic and non-syndromic v0.5007 OTC Zornitza Stark Marked gene: OTC as ready
Intellectual disability syndromic and non-syndromic v0.5007 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5007 OTC Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency, MIM#311250
Intellectual disability syndromic and non-syndromic v0.5006 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5005 OTC Zornitza Stark reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency, MIM#311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5005 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
Mendeliome v1.424 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
BabyScreen+ newborn screening v0.676 OTC Zornitza Stark Marked gene: OTC as ready
BabyScreen+ newborn screening v0.676 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.676 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
BabyScreen+ newborn screening v0.676 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
BabyScreen+ newborn screening v0.676 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.676 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis to Osteopetrosis, autosomal recessive 5, MIM#259720
BabyScreen+ newborn screening v0.675 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
BabyScreen+ newborn screening v0.674 OSTM1 Zornitza Stark Classified gene: OSTM1 as Red List (low evidence)
BabyScreen+ newborn screening v0.674 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Marked gene: TICAM1 as ready
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.103 TICAM1 Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Susceptibility to Viral Infections v0.102 TICAM1 Zornitza Stark Publications for gene: TICAM1 were set to
Susceptibility to Viral Infections v0.101 TICAM1 Zornitza Stark edited their review of gene: TICAM1: Added comment: Two each with bi-allelic and mono-allelic variants (total of 4 patients), plus functional data.; Changed publications: 22105173, 26513235
Susceptibility to Viral Infections v0.101 STAT2 Peter McNaughton reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23391734, PMID: 34448086; Phenotypes: Susceptibility to viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.101 TICAM1 Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.100 TICAM1 Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.100 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
Susceptibility to Viral Infections v0.99 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Susceptibility to Viral Infections v0.98 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.97 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.673 DPAGT1 Zornitza Stark changed review comment from: Bi-allelic variants cause either multi-system CDG or congenital myasthenia graves.

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

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

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

Phenotype may already be apparent in newborn period so clinical correlation possible.
BabyScreen+ newborn screening v0.673 UMOD Zornitza Stark Marked gene: UMOD as ready
BabyScreen+ newborn screening v0.673 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.673 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from Nephropathy to Tubulointerstitial kidney disease MIM#162000
BabyScreen+ newborn screening v0.672 UMOD Zornitza Stark Publications for gene: UMOD were set to
BabyScreen+ newborn screening v0.671 UMOD Zornitza Stark Classified gene: UMOD as Red List (low evidence)
BabyScreen+ newborn screening v0.671 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.97 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Susceptibility to Viral Infections v0.96 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Susceptibility to Viral Infections v0.95 TBK1 Zornitza Stark Mode of pathogenicity for gene: TBK1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Susceptibility to Viral Infections v0.95 TBK1 Zornitza Stark Mode of pathogenicity for gene: TBK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Susceptibility to Viral Infections v0.94 TLR3 Peter McNaughton reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17872438, PMID: 25339207; Phenotypes: Herpes encephalitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Marked gene: RAX2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Classified gene: RAX2 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.130 RAX2 Zornitza Stark Gene: rax2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.129 RAX2 Zornitza Stark gene: RAX2 was added
gene: RAX2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature
Mode of inheritance for gene: RAX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX2 were set to 30607024
Phenotypes for gene: RAX2 were set to Retinitis pigmentosa-95 (RP95), MIM#620102
Review for gene: RAX2 was set to GREEN
Added comment: 6 individuals from 5 families reported.
Sources: Literature
Mendeliome v1.424 RAX2 Zornitza Stark Phenotypes for gene: RAX2 were changed from Cone-rod dystrophy 11, MIM# 610381 to Cone-rod dystrophy 11, MIM# 610381; Retinitis pigmentosa-95 (RP95), MIM#620102
Mendeliome v1.423 RAX2 Zornitza Stark edited their review of gene: RAX2: Changed phenotypes: Cone-rod dystrophy 11, MIM# 610381, Retinitis pigmentosa-95 (RP95), MIM#620102
Ataxia - paediatric v1.1 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Ataxia - paediatric v1.0 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5005 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Intellectual disability syndromic and non-syndromic v0.5004 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.150 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.842 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Mitochondrial disease v0.841 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1794 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Regression v0.509 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Regression v0.509 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1793 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.11 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Regression v0.509 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Regression v0.509 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.508 LETM1 Zornitza Stark gene: LETM1 was added
gene: LETM1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Review for gene: LETM1 was set to GREEN
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components

Around half had regression.
Sources: Expert Review
Mendeliome v1.423 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Mendeliome v1.422 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.670 OXCT1 David Amor reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30799594; Phenotypes: 245050, Succinyl CoA:3-oxoacid CoA transferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.670 OTOGL David Amor reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 614944, Deafness, autosomal recessive 84B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.670 OTOF David Amor reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 601071, Auditory neuropathy, autosomal recessive, 1, AND Deafness, autosomal recessive 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.670 OTOA David Amor changed review comment from: Gene-disease association: strong. Note that large deletions are relatively common - will we detect by WGS?

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

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

Severity: moderate to severe prelingual sensorineural recessive deafness

Age of onset: congenital

Non-molecular confirmatory testing: audiology

Treatment: HA, CI.
BabyScreen+ newborn screening v0.670 OTOA David Amor reviewed gene: OTOA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 607039, Deafness, autosomal recessive 22; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.670 OTC David Amor reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 311250 Ornithine transcarbamylase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.670 OSTM1 David Amor reviewed gene: OSTM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34011644; Phenotypes: 259720 Osteopetrosis, autosomal recessive 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Susceptibility to Viral Infections v0.94 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.93 TBK1 Zornitza Stark reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Hereditary predisposition to infections, MONDO:0015979, TBK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.160 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
Mendeliome v1.422 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
BabyScreen+ newborn screening v0.670 UNC13D Zornitza Stark Marked gene: UNC13D as ready
BabyScreen+ newborn screening v0.670 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.670 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
BabyScreen+ newborn screening v0.669 UNC13D Zornitza Stark Tag treatable tag was added to gene: UNC13D.
BabyScreen+ newborn screening v0.669 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
BabyScreen+ newborn screening v0.669 SFTPC Zornitza Stark Tag for review tag was added to gene: SFTPC.
BabyScreen+ newborn screening v0.669 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Classified gene: DVL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Classified gene: DVL1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Heyn-Sproul-Jackson syndrome, MIM# 618724
Skeletal Dysplasia_Fetal v0.151 DNMT3A Zornitza Stark Classified gene: DNMT3A as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.151 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.150 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Heyn-Sproul-Jackson syndrome, MIM# 618724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.2 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.1 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Maturity-onset Diabetes of the Young v1.1 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Maturity-onset Diabetes of the Young v1.0 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Mendeliome v1.422 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Mendeliome v1.422 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Mendeliome v1.421 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Monogenic Diabetes v0.32 PAX4 Zornitza Stark Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.31 PAX4 Zornitza Stark Classified gene: PAX4 as Red List (low evidence)
Monogenic Diabetes v0.31 PAX4 Zornitza Stark Gene: pax4 has been classified as Red List (Low Evidence).
Monogenic Diabetes v0.30 PAX4 Zornitza Stark Tag refuted tag was added to gene: PAX4.
Hypertrophic cardiomyopathy_HCM v0.167 FHOD3 Zornitza Stark Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288
BabyScreen+ newborn screening v0.669 CDH23 Zornitza Stark Tag for review was removed from gene: CDH23.
BabyScreen+ newborn screening v0.669 MEN1 Zornitza Stark Classified gene: MEN1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.669 MEN1 Zornitza Stark Gene: men1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.668 MEN1 Zornitza Stark Classified gene: MEN1 as Red List (low evidence)
BabyScreen+ newborn screening v0.668 MEN1 Zornitza Stark Gene: men1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.667 MEN1 Zornitza Stark Tag for review was removed from gene: MEN1.
BabyScreen+ newborn screening v0.667 MEN1 Zornitza Stark changed review comment from: For review re age of onset; to: For review re age of onset: surveillance starts age 5, disease onset generally later.
BabyScreen+ newborn screening v0.667 MEN1 Zornitza Stark edited their review of gene: MEN1: Changed rating: RED
BabyScreen+ newborn screening v0.667 MEFV Zornitza Stark Tag for review was removed from gene: MEFV.
Tag treatable tag was added to gene: MEFV.
Susceptibility to Viral Infections v0.93 TICAM1 Peter McNaughton reviewed gene: TICAM1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 22105173; Phenotypes: Herpes encephalitis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.667 MEFV Zornitza Stark changed review comment from: Generally bi-allelic disease. There are a small number of variants linked to mono-allelic disease. Are they worth including specifically?

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

Reviewed: only include bi-allelic disease.
BabyScreen+ newborn screening v0.667 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
BabyScreen+ newborn screening v0.667 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.667 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from Infantile spasms to Nephrotic syndrome, type 15, MIM# 617609
BabyScreen+ newborn screening v0.666 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.665 MAGI2 Zornitza Stark Classified gene: MAGI2 as Red List (low evidence)
BabyScreen+ newborn screening v0.665 MAGI2 Zornitza Stark Gene: magi2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.664 MAGI2 Zornitza Stark Tag for review was removed from gene: MAGI2.
BabyScreen+ newborn screening v0.664 LRP5 Zornitza Stark Tag for review was removed from gene: LRP5.
Susceptibility to Viral Infections v0.93 STAT1 Peter McNaughton reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12590259, PMID: 16585605; Phenotypes: Susceptibility to mycobacterial disease, severe viral disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.664 LRP5 Zornitza Stark changed review comment from: Gene is associated with multiple phenotypes.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Predominantly neonatal onset.
BabyScreen+ newborn screening v0.664 LRP4 Zornitza Stark Classified gene: LRP4 as Red List (low evidence)
BabyScreen+ newborn screening v0.664 LRP4 Zornitza Stark Gene: lrp4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.663 LRP4 Zornitza Stark Tag for review was removed from gene: LRP4.
Susceptibility to Viral Infections v0.93 TBK1 Peter McNaughton reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22851595; Phenotypes: Susceptibility to herpes encephalitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.663 LDLR Zornitza Stark Mode of inheritance for gene: LDLR was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.662 LDLR Zornitza Stark changed review comment from: ClinGen: 'strong actionability' in paediatric patients.

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

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

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

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

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

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

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

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

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

Included as a treatable disorder in rx-genes.

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

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

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

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

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

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

Treatment: CoQ10 supplementation, improves nephrotic features

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

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

Treatment: CoQ10 supplementation, improves nephrotic features

For review: re age of onset -- predominantly later onset, so not included
BabyScreen+ newborn screening v0.660 COQ8B Zornitza Stark edited their review of gene: COQ8B: Changed rating: RED
BabyScreen+ newborn screening v0.660 UMOD Lilian Downie reviewed gene: UMOD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301530; Phenotypes: Tubulointerstitial kidney disease MIM#162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.660 UNC13D Lilian Downie reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301617; Phenotypes: Hemophagocytic lymphohistiocytosis MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.660 UROD Lilian Downie reviewed gene: UROD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24175354, PMID: 17360334; Phenotypes: Porphyria, hepatoerythropoietic MIM#176100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.660 COCH Zornitza Stark Marked gene: COCH as ready
BabyScreen+ newborn screening v0.660 COCH Zornitza Stark Gene: coch has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.660 COCH Zornitza Stark Phenotypes for gene: COCH were changed from Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 to Deafness, autosomal recessive 110, MIM# 618094
BabyScreen+ newborn screening v0.659 COCH Zornitza Stark Mode of inheritance for gene: COCH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.658 COCH Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.658 CNGB3 Zornitza Stark Marked gene: CNGB3 as ready
BabyScreen+ newborn screening v0.658 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.658 CNGB3 Zornitza Stark Phenotypes for gene: CNGB3 were changed from Achromatopsia-3 to Achromatopsia 3, MIM# 262300
BabyScreen+ newborn screening v0.657 CNGB3 Zornitza Stark Classified gene: CNGB3 as Red List (low evidence)
BabyScreen+ newborn screening v0.657 CNGB3 Zornitza Stark Gene: cngb3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.656 CNGB3 Zornitza Stark reviewed gene: CNGB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 3, MIM# 262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.656 CLRN1 Zornitza Stark Marked gene: CLRN1 as ready
BabyScreen+ newborn screening v0.656 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.656 CLRN1 Zornitza Stark Phenotypes for gene: CLRN1 were changed from Usher syndrome, type 3A to Usher syndrome, type 3A, MIM# 276902
BabyScreen+ newborn screening v0.655 CLRN1 Zornitza Stark Classified gene: CLRN1 as Red List (low evidence)
BabyScreen+ newborn screening v0.655 CLRN1 Zornitza Stark Gene: clrn1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.654 CLRN1 Zornitza Stark reviewed gene: CLRN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 3A, MIM# 276902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.654 CLPP Zornitza Stark Marked gene: CLPP as ready
BabyScreen+ newborn screening v0.654 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.654 CLPP Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.654 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
BabyScreen+ newborn screening v0.654 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.654 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement to Deafness, autosomal recessive 116 MIM#619093
BabyScreen+ newborn screening v0.653 CLDN19 Zornitza Stark Classified gene: CLDN19 as Red List (low evidence)
BabyScreen+ newborn screening v0.653 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.652 CLDN19 Zornitza Stark reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 116 MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.652 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
BabyScreen+ newborn screening v0.652 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.652 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from Hearing loss, non-syndromic, autosomal recessive to Deafness, autosomal recessive 29, MIM# 614035
BabyScreen+ newborn screening v0.651 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.226 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 to Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600
Mendeliome v1.421 CLCN7 Zornitza Stark changed review comment from: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Bi-allelic variants in this gene are associated with osteopetrosis.; to: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.

Mono- and bi-allelic variants in this gene are associated with osteopetrosis.
Mendeliome v1.421 CLCN7 Zornitza Stark edited their review of gene: CLCN7: Changed phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal dominant 2, MIM# 166600, Osteopetrosis, autosomal recessive 4, MIM# 611490
Skeletal dysplasia v0.225 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.224 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Skeletal dysplasia v0.223 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.222 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
BabyScreen+ newborn screening v0.651 SFTPC Seb Lunke Marked gene: SFTPC as ready
BabyScreen+ newborn screening v0.651 SFTPC Seb Lunke Gene: sftpc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.651 SFTPC Seb Lunke Phenotypes for gene: SFTPC were changed from Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Osteopetrosis v0.29 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Osteopetrosis v0.29 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Osteopetrosis v0.29 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from to Osteopetrosis, autosomal recessive 4, MIM#611490
Osteopetrosis v0.28 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Osteopetrosis v0.27 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.26 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
BabyScreen+ newborn screening v0.650 SFTPC Seb Lunke reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.421 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
BabyScreen+ newborn screening v0.650 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
BabyScreen+ newborn screening v0.650 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.650 CLCN7 Zornitza Stark Tag treatable tag was added to gene: CLCN7.
BabyScreen+ newborn screening v0.650 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.650 CEP78 Zornitza Stark Marked gene: CEP78 as ready
BabyScreen+ newborn screening v0.650 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.650 CEP78 Zornitza Stark Phenotypes for gene: CEP78 were changed from Cone-rod dystrophy and hearing loss to Cone-rod dystrophy and hearing loss MIM#617236
BabyScreen+ newborn screening v0.649 CEP78 Zornitza Stark Classified gene: CEP78 as Red List (low evidence)
BabyScreen+ newborn screening v0.649 CEP78 Zornitza Stark Gene: cep78 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.648 CEP78 Zornitza Stark changed review comment from: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason.; to: Gene-disease association assessed as 'strong' by ClinGen.

Atypical Usher phenotype.

However, onset of visual and hearing symptoms is variable, ranging from first to fourth decade, exclude for this reason, unlikely to be detected by the newborn hearing screening program.
BabyScreen+ newborn screening v0.648 CEP78 Zornitza Stark reviewed gene: CEP78: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy and hearing loss MIM#617236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.648 SFTPB Seb Lunke Marked gene: SFTPB as ready
BabyScreen+ newborn screening v0.648 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.648 SFTPB Seb Lunke Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
BabyScreen+ newborn screening v0.647 SFTPB Seb Lunke Classified gene: SFTPB as Red List (low evidence)
BabyScreen+ newborn screening v0.647 SFTPB Seb Lunke Gene: sftpb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.646 SFTPB Seb Lunke reviewed gene: SFTPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.646 SETX Seb Lunke Marked gene: SETX as ready
BabyScreen+ newborn screening v0.646 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.646 SETX Seb Lunke Phenotypes for gene: SETX were changed from Ataxia-ocular apraxia 2 to Spinocerebellar ataxia, autosomal recessive 1, 606002
BabyScreen+ newborn screening v0.645 SETX Seb Lunke Classified gene: SETX as Red List (low evidence)
BabyScreen+ newborn screening v0.645 SETX Seb Lunke Gene: setx has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.644 SETX Seb Lunke reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 1, 606002; Mode of inheritance: None
BabyScreen+ newborn screening v0.644 SETBP1 Seb Lunke Marked gene: SETBP1 as ready
BabyScreen+ newborn screening v0.644 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.644 SETBP1 Seb Lunke Phenotypes for gene: SETBP1 were changed from Schinzel-Giedion syndrome to Schinzel-Giedion midface retraction syndrome, MIM# 269150
BabyScreen+ newborn screening v0.643 SETBP1 Seb Lunke Classified gene: SETBP1 as Red List (low evidence)
BabyScreen+ newborn screening v0.643 SETBP1 Seb Lunke Gene: setbp1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.642 SETBP1 Seb Lunke reviewed gene: SETBP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.642 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
BabyScreen+ newborn screening v0.642 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.642 CLCN5 Zornitza Stark Phenotypes for gene: CLCN5 were changed from Dent disease to Dent disease, MIM#300009
BabyScreen+ newborn screening v0.641 CLCN5 Zornitza Stark Classified gene: CLCN5 as Red List (low evidence)
BabyScreen+ newborn screening v0.641 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.640 CLCN5 Zornitza Stark reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease, MIM#300009; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.640 CIB2 Zornitza Stark Marked gene: CIB2 as ready
BabyScreen+ newborn screening v0.640 CIB2 Zornitza Stark Gene: cib2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.640 CIB2 Zornitza Stark reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 48, MIM# 609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.640 CHM Zornitza Stark Marked gene: CHM as ready
BabyScreen+ newborn screening v0.640 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.640 CHM Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideraemia MIM#303100
BabyScreen+ newborn screening v0.639 CHM Zornitza Stark Classified gene: CHM as Red List (low evidence)
BabyScreen+ newborn screening v0.639 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.638 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideraemia MIM#303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.150 DVL3 Krithika Murali gene: DVL3 was added
gene: DVL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 25577943
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3-MIM#616894
Review for gene: DVL3 was set to GREEN
Added comment: Detection of short stature antenatally and mesomelia at birth reported.
Sources: Literature
BabyScreen+ newborn screening v0.638 CHKB Zornitza Stark Marked gene: CHKB as ready
BabyScreen+ newborn screening v0.638 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.638 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type to Muscular dystrophy, congenital, megaconial type, MIM# 602541
BabyScreen+ newborn screening v0.637 CHKB Zornitza Stark Classified gene: CHKB as Red List (low evidence)
BabyScreen+ newborn screening v0.637 CHKB Zornitza Stark Gene: chkb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.636 CHKB Zornitza Stark reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.150 DVL1 Krithika Murali gene: DVL1 was added
gene: DVL1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: DVL1 were set to 25817014; 25817016
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Review for gene: DVL1 was set to GREEN
gene: DVL1 was marked as current diagnostic
Added comment: Previous review by Belinda Chong:

Onset at birth - Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly . Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2.

Only variants that result in truncation (located in the final 2 exons) have been reported as pathogenic. Pathogenic truncating variants that escape NMD have been shown to result in a gain of function with increased canonical WNT activity. The paternal allele is predicted to be imprinted, with the maternal allele expressed (geneimprint.com), however reports so far have been for de novo variants.
Sources: Literature
BabyScreen+ newborn screening v0.636 CHD2 Zornitza Stark Marked gene: CHD2 as ready
BabyScreen+ newborn screening v0.636 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.636 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from Developmental delay, intellectual disability, epilepsy to Epileptic encephalopathy, childhood-onset (MIM # 615369)
BabyScreen+ newborn screening v0.635 CHD2 Zornitza Stark Classified gene: CHD2 as Red List (low evidence)
BabyScreen+ newborn screening v0.635 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.634 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.634 CFP Zornitza Stark Marked gene: CFP as ready
BabyScreen+ newborn screening v0.634 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.634 CFP Zornitza Stark reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Properdin deficiency, X-linked MIM#312060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.634 CFL2 Zornitza Stark Marked gene: CFL2 as ready
BabyScreen+ newborn screening v0.634 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.634 CFL2 Zornitza Stark Phenotypes for gene: CFL2 were changed from Nemaline myopathy to Nemaline myopathy 7, autosomal recessive, MIM# 610687
BabyScreen+ newborn screening v0.633 CFL2 Zornitza Stark Classified gene: CFL2 as Red List (low evidence)
BabyScreen+ newborn screening v0.633 CFL2 Zornitza Stark Gene: cfl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.632 CFL2 Zornitza Stark reviewed gene: CFL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 7, autosomal recessive, MIM# 610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.150 DNMT3A Krithika Murali gene: DNMT3A was added
gene: DNMT3A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Review for gene: DNMT3A was set to AMBER
Added comment: Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome.

The primordial dwarfism phenotype is associated with proportionate IUGR antenatally with more evident postnatal growth failure and microcephaly.
Sources: Literature
BabyScreen+ newborn screening v0.632 SERPINA1 Seb Lunke Marked gene: SERPINA1 as ready
BabyScreen+ newborn screening v0.632 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.632 SERPINA1 Seb Lunke Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
BabyScreen+ newborn screening v0.631 SERPINA1 Seb Lunke Classified gene: SERPINA1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.631 SERPINA1 Seb Lunke Gene: serpina1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.630 SERPINA1 Seb Lunke Tag for review tag was added to gene: SERPINA1.
BabyScreen+ newborn screening v0.630 SERPINA1 Seb Lunke reviewed gene: SERPINA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.630 CFC1 Zornitza Stark Marked gene: CFC1 as ready
BabyScreen+ newborn screening v0.630 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.630 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from Congenital heart defects to Heterotaxy, visceral, 2, autosomal MIM#605376
BabyScreen+ newborn screening v0.629 CFC1 Zornitza Stark Classified gene: CFC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.629 CFC1 Zornitza Stark Gene: cfc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.628 CFC1 Zornitza Stark reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 2, autosomal MIM#605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Marked gene: CEP83 as ready
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Classified gene: CEP83 as Red List (low evidence)
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.627 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.627 CEP290 Zornitza Stark Marked gene: CEP290 as ready
BabyScreen+ newborn screening v0.627 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.627 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
BabyScreen+ newborn screening v0.626 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
BabyScreen+ newborn screening v0.626 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.625 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.625 SELENON Seb Lunke Marked gene: SELENON as ready
BabyScreen+ newborn screening v0.625 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.625 SELENON Seb Lunke Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion to Myopathy, congenital, with fiber-type disproportion, MIM# 255310
BabyScreen+ newborn screening v0.624 SELENON Seb Lunke Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.623 SELENON Seb Lunke Classified gene: SELENON as Red List (low evidence)
BabyScreen+ newborn screening v0.623 SELENON Seb Lunke Gene: selenon has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.622 SELENON Seb Lunke reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.421 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maturity-onset Diabetes of the Young v1.0 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic Diabetes v0.30 PAX4 Krithika Murali reviewed gene: PAX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maturity-onset diabetes of the young, type IX - MIM#612225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy_HCM v0.166 FHOD3 Chern Lim reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32335906, 33586461, 30442288, 28991257; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Marked gene: TBCE as ready
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.28 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from Combined immune deficiency with syndromic features to Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Combined Immunodeficiency v1.27 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Combined Immunodeficiency v1.27 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.26 TBCE Zornitza Stark reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.622 VCP Zornitza Stark Marked gene: VCP as ready
BabyScreen+ newborn screening v0.622 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.622 VCP Zornitza Stark Phenotypes for gene: VCP were changed from Inclusion body myopathy with early-onset paget disease and frontotemporal dementia to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Charcot-Marie-Tooth disease, type 2Y, MIM# 616687
BabyScreen+ newborn screening v0.621 VCP Zornitza Stark Publications for gene: VCP were set to
BabyScreen+ newborn screening v0.620 VCP Zornitza Stark Classified gene: VCP as Red List (low evidence)
BabyScreen+ newborn screening v0.620 VCP Zornitza Stark Gene: vcp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.619 VCP Zornitza Stark reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2Y, MIM# 616687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.619 VDR Zornitza Stark Marked gene: VDR as ready
BabyScreen+ newborn screening v0.619 VDR Zornitza Stark Gene: vdr has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.619 VDR Zornitza Stark Phenotypes for gene: VDR were changed from Vitamin D-dependent rickets to Rickets, vitamin D-resistant, type IIA MIM#277440
BabyScreen+ newborn screening v0.618 VDR Zornitza Stark Publications for gene: VDR were set to
BabyScreen+ newborn screening v0.617 VDR Zornitza Stark Tag treatable tag was added to gene: VDR.
BabyScreen+ newborn screening v0.617 VHL Zornitza Stark Marked gene: VHL as ready
BabyScreen+ newborn screening v0.617 VHL Zornitza Stark Gene: vhl has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.617 VHL Zornitza Stark Publications for gene: VHL were set to
BabyScreen+ newborn screening v0.616 VHL Zornitza Stark Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome to von Hippel-Lindau syndrome MIM#193300
BabyScreen+ newborn screening v0.615 VHL Zornitza Stark Tag for review tag was added to gene: VHL.
Aortopathy_Connective Tissue Disorders v1.73 LTBP3 Zornitza Stark Classified gene: LTBP3 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.73 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C to Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493
Cardiomyopathy_Paediatric v0.141 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Cardiomyopathy_Paediatric v0.140 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.139 LDB3 Zornitza Stark Classified gene: LDB3 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.139 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.138 LDB3 Zornitza Stark reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Classified gene: DHCR24 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.149 DHCR24 Zornitza Stark changed review comment from: Uncertain whether it would present antenatally predominantly with the skeletal findings.; to: Uncertain whether it would present antenatally predominantly with the skeletal findings. Appropriately rated Green on Fetal Anomalies.
Skeletal Dysplasia_Fetal v0.149 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Desmosterolosis - MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.615 CEP152 Zornitza Stark Marked gene: CEP152 as ready
BabyScreen+ newborn screening v0.615 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.615 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome to Microcephaly 9, primary, autosomal recessive, MIM# 614852; Seckel syndrome 5, MIM# 613823
BabyScreen+ newborn screening v0.614 CEP152 Zornitza Stark Classified gene: CEP152 as Red List (low evidence)
BabyScreen+ newborn screening v0.614 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.613 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, Seckel syndrome 5, MIM# 613823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.613 CDT1 Zornitza Stark Marked gene: CDT1 as ready
BabyScreen+ newborn screening v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.613 CDT1 Zornitza Stark Classified gene: CDT1 as Red List (low evidence)
BabyScreen+ newborn screening v0.613 CDT1 Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.612 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.612 CDSN Zornitza Stark Marked gene: CDSN as ready
BabyScreen+ newborn screening v0.612 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.612 CDSN Zornitza Stark Phenotypes for gene: CDSN were changed from Hypotrichosis to Peeling skin syndrome 1, MIM#270300
BabyScreen+ newborn screening v0.611 CDSN Zornitza Stark Mode of inheritance for gene: CDSN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.610 CDSN Zornitza Stark Classified gene: CDSN as Red List (low evidence)
BabyScreen+ newborn screening v0.610 CDSN Zornitza Stark Gene: cdsn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.609 CDSN Zornitza Stark reviewed gene: CDSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 1 MIM#270300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.609 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
BabyScreen+ newborn screening v0.609 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.609 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from Epileptic encephalopathy, early infantile, 2 to Epileptic encephalopathy, early infantile, 2, MIM 300672
BabyScreen+ newborn screening v0.608 CDKL5 Zornitza Stark Classified gene: CDKL5 as Red List (low evidence)
BabyScreen+ newborn screening v0.608 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.607 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.607 CDH23 Zornitza Stark edited their review of gene: CDH23: Changed phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386), Usher syndrome, type 1D/F digenic (MIM #601067)
BabyScreen+ newborn screening v0.607 CDH23 Zornitza Stark Marked gene: CDH23 as ready
BabyScreen+ newborn screening v0.607 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.607 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Deafness, autosomal recessive; Usher syndrome, type 1D to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386); Usher syndrome, type 1D/F digenic (MIM #601067)
BabyScreen+ newborn screening v0.606 CDH23 Zornitza Stark Tag for review tag was added to gene: CDH23.
BabyScreen+ newborn screening v0.606 CDH23 Zornitza Stark reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.606 CDC14A Zornitza Stark Marked gene: CDC14A as ready
BabyScreen+ newborn screening v0.606 CDC14A Zornitza Stark Gene: cdc14a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.606 CDC14A Zornitza Stark reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.606 UROS Lilian Downie reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027798; Phenotypes: Porphyria, congenital erythropoietic MIM#263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.606 USH1C Lilian Downie reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.606 USH1G Lilian Downie reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301442; Phenotypes: Usher syndrome type 1 MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.606 USH2A Lilian Downie reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301515, PMID: 36041150 , PMID: 34331125; Phenotypes: Usher Syndrome Type II MIM#276901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.606 VCAN Lilian Downie edited their review of gene: VCAN: Changed rating: GREEN; Changed publications: PMID: 16043844, PMID: 20301747
BabyScreen+ newborn screening v0.606 VCAN Lilian Downie reviewed gene: VCAN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.606 GBA Alison Yeung reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease type 1, MIM#230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.358 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
BabyScreen+ newborn screening v0.606 GATA4 Alison Yeung changed review comment from: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
BabyScreen+ newborn screening v0.606 GATA4 Alison Yeung changed review comment from: Well-established gene-disease association
Onset: infancy (congenital heart defects) but variable expressivity and incomplete penetrance common
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes
Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects
Severity: variable defects. No syndromic features, no association with arrhythmias
Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes
BabyScreen+ newborn screening v0.606 GATA4 Alison Yeung Tag for review tag was added to gene: GATA4.
BabyScreen+ newborn screening v0.606 GATA4 Alison Yeung reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.606 G6PD Alison Yeung Tag review tag was added to gene: G6PD.
Combined Immunodeficiency v1.26 TBCE Peter McNaughton gene: TBCE was added
gene: TBCE was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PMID: 36258138
Phenotypes for gene: TBCE were set to Combined immune deficiency with syndromic features
Review for gene: TBCE was set to GREEN
Added comment: Patients frequently display impaired mitogen responses, T cell-dependent antibody responses, and reduced frequencies of CD4 + and CD8 + effector memory of CD4 + and CD8 + TEMRA and naive B cells, with an increased proportion of CD21lowCD27- B-cell populations.
They suffer from varied bacterial infections in spite of amoxicillin prophylaxis and display opportunistic viral and fungal infections.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5004 HNRNPH1 Zornitza Stark Phenotypes for gene: HNRNPH1 were changed from HNRNPH1 ‐related syndromic intellectual disability to Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
Intellectual disability syndromic and non-syndromic v0.5003 HNRNPH1 Zornitza Stark reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.421 HNRNPH1 Zornitza Stark Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384 to Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
Mendeliome v1.420 HNRNPH1 Zornitza Stark edited their review of gene: HNRNPH1: Changed phenotypes: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
BabyScreen+ newborn screening v0.606 DDR2 Zornitza Stark Marked gene: DDR2 as ready
BabyScreen+ newborn screening v0.606 DDR2 Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.606 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from Spondylometaepiphyseal dysplasia, short limb-hand type to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175
BabyScreen+ newborn screening v0.605 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.604 DDR2 Zornitza Stark edited their review of gene: DDR2: Added comment: AR LoF variants cause a skeletal dysplasia of perinatal onset, whereas AD GoF variants cause a syndromic disorder.

No specific treatment for either.; Changed phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175
BabyScreen+ newborn screening v0.604 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
Skeletal Dysplasia_Fetal v0.148 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Skeletal Dysplasia_Fetal v0.147 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.604 VCP Lilian Downie reviewed gene: VCP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16247064, PMID: 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.604 VDR Lilian Downie reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32596195, PMID: 31926093, PMID: 32049653; Phenotypes: Rickets, vitamin D-resistant, type IIA MIM#277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.604 VHL Lilian Downie reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301636, PMID: 33945366, PMID: 34613603; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.138 CDH2 Zornitza Stark Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Cardiomyopathy_Paediatric v0.137 CDH2 Zornitza Stark Publications for gene: CDH2 were set to
Cardiomyopathy_Paediatric v0.136 CDH2 Zornitza Stark Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.135 CDH2 Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.135 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.134 CDH2 Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.

Some presented in adolescence.
Cardiomyopathy_Paediatric v0.134 CDH2 Zornitza Stark reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28280076; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic Cardiomyopathy v0.64 Zornitza Stark removed gene:CHD2 from the panel
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.63 CDH2 Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.62 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Review for gene: CDH2 was set to AMBER
Added comment: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen.
Sources: Expert list
Mendeliome v1.420 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to 23768516; 29367541; 34915728; 31965688; 29367541
Mendeliome v1.419 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Mendeliome v1.419 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.14 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Dilated Cardiomyopathy v1.13 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Dilated Cardiomyopathy v1.13 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.72 LTBP3 Krithika Murali changed review comment from: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.

Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.; to: 3rd individual reported with dissection of the descending aorta in adulthood. WES identified compound heterozygous LTBP3 frameshift variants predicted to undergo NMD (confirmed in trans through familial segregation studies), this individual also had spinal stenosis and dental anomalies. His offspring with heterozygous variants had no aortic or other anomalies.

Association between heterozygous variants (both missense and NMD-predicted) and later-onset thoracic aortic dissection postulated - AMBER association.
Aortopathy_Connective Tissue Disorders v1.72 LTBP3 Krithika Murali reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34906192; Phenotypes: Dental anomalies and short stature - MIM#601216, thoracic aortic aneurysms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.134 LDB3 Suliman Khan reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36253531; Phenotypes: pediatric dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.418 PRDM16 Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v1.12 PRDM16 Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5003 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Intellectual disability syndromic and non-syndromic v0.5003 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5003 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Intellectual disability syndromic and non-syndromic v0.5002 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Intellectual disability syndromic and non-syndromic v0.5001 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5000 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22729224, 22729223, 35665751, 34354878, 32446860, 31441589; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Marked gene: CD79B as ready
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.122 CD79B Zornitza Stark Phenotypes for gene: CD79B were changed from to Agammaglobulinaemia 6, MIM# 612692
Predominantly Antibody Deficiency v0.121 CD79B Zornitza Stark Publications for gene: CD79B were set to
Predominantly Antibody Deficiency v0.120 CD79B Zornitza Stark Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark edited their review of gene: CD79B: Changed publications: 17709424, 17675462, 33733381, 24722855
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 6, MIM# 612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.119 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
Mendeliome v1.418 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
BabyScreen+ newborn screening v0.604 CD79B Zornitza Stark Marked gene: CD79B as ready
BabyScreen+ newborn screening v0.604 CD79B Zornitza Stark Gene: cd79b has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.604 CD79B Zornitza Stark Tag treatable tag was added to gene: CD79B.
BabyScreen+ newborn screening v0.604 CD79B Zornitza Stark reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Classified gene: RRAS2 as Green List (high evidence)
Hydrops fetalis v0.293 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.292 RRAS2 Zornitza Stark gene: RRAS2 was added
gene: RRAS2 was added to Hydrops fetalis. Sources: Expert Review
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to 33686258; 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624
Review for gene: RRAS2 was set to GREEN
Added comment: Established Rasopathy gene; identified in hydrops cohort PMID 33686258.
Sources: Expert Review
Mendeliome v1.418 WNK4 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.

Caution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.
Hypertension and Aldosterone disorders v1.5 WNK4 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.

Caution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.
Skeletal Dysplasia_Fetal v0.146 DHCR24 Krithika Murali gene: DHCR24 was added
gene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to PMID: 21671375
Phenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398
Review for gene: DHCR24 was set to GREEN
Added comment: Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described.
Sources: Literature, Expert list
Predominantly Antibody Deficiency v0.119 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
Mendeliome v1.418 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
BabyScreen+ newborn screening v0.603 CD79A Zornitza Stark Marked gene: CD79A as ready
BabyScreen+ newborn screening v0.603 CD79A Zornitza Stark Gene: cd79a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.603 CD79A Zornitza Stark changed review comment from: At least 5 unrelated families.

Presents in infancy.

Treatment: immunoglobulin replacement.; to: At least 5 unrelated families.

Presents in infancy with severe recurrent infections.

Treatment: immunoglobulin replacement.
BabyScreen+ newborn screening v0.603 CD79A Zornitza Stark Tag treatable tag was added to gene: CD79A.
BabyScreen+ newborn screening v0.603 CD79A Zornitza Stark reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.26 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
Mendeliome v1.418 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
BabyScreen+ newborn screening v0.603 CD40LG Zornitza Stark Marked gene: CD40LG as ready
BabyScreen+ newborn screening v0.603 CD40LG Zornitza Stark Gene: cd40lg has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.603 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
BabyScreen+ newborn screening v0.602 CD40LG Zornitza Stark Tag treatable tag was added to gene: CD40LG.
BabyScreen+ newborn screening v0.602 CD40LG Zornitza Stark reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Combined Immunodeficiency (absent T present B cells) v1.0 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
Mendeliome v1.418 CD3E Zornitza Stark Tag treatable tag was added to gene: CD3E.
BabyScreen+ newborn screening v0.602 CD3E Zornitza Stark Marked gene: CD3E as ready
BabyScreen+ newborn screening v0.602 CD3E Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.602 CD3E Zornitza Stark reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T present B cells) v1.0 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
Mendeliome v1.418 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
BabyScreen+ newborn screening v0.602 CD3D Zornitza Stark Marked gene: CD3D as ready
BabyScreen+ newborn screening v0.602 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.602 CD3D Zornitza Stark Tag treatable tag was added to gene: CD3D.
BabyScreen+ newborn screening v0.602 CD3D Zornitza Stark reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Marked gene: CTSK as ready
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Classified gene: CTSK as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Classified gene: CUL7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Marked gene: FBXW11 as ready
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related
Autoinflammatory Disorders v1.1 FBXW11 Zornitza Stark Classified gene: FBXW11 as Red List (low evidence)
Autoinflammatory Disorders v1.1 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.0 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disorder MONDO:0019751, FBXW11-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.602 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
BabyScreen+ newborn screening v0.602 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.602 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction and cholestasis to Arthrogryposis, renal dysfunction, and cholestasis MIM#613404
BabyScreen+ newborn screening v0.601 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
BabyScreen+ newborn screening v0.600 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Red List (low evidence)
BabyScreen+ newborn screening v0.600 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.599 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.599 VLDLR Zornitza Stark Marked gene: VLDLR as ready
BabyScreen+ newborn screening v0.599 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.599 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050
BabyScreen+ newborn screening v0.598 VLDLR Zornitza Stark Classified gene: VLDLR as Red List (low evidence)
BabyScreen+ newborn screening v0.598 VLDLR Zornitza Stark Gene: vldlr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.597 VPS13A Zornitza Stark Marked gene: VPS13A as ready
BabyScreen+ newborn screening v0.597 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.597 VPS13A Zornitza Stark Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150
BabyScreen+ newborn screening v0.596 VPS13A Zornitza Stark Classified gene: VPS13A as Red List (low evidence)
BabyScreen+ newborn screening v0.596 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.595 VPS13B Zornitza Stark Marked gene: VPS13B as ready
BabyScreen+ newborn screening v0.595 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.595 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Cohen syndrome to Cohen syndrome MIM#216550
BabyScreen+ newborn screening v0.594 VPS13B Zornitza Stark Classified gene: VPS13B as Red List (low evidence)
BabyScreen+ newborn screening v0.594 VPS13B Zornitza Stark Gene: vps13b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.593 ARSA Zornitza Stark Publications for gene: ARSA were set to
BabyScreen+ newborn screening v0.592 ARSA Zornitza Stark Tag for review was removed from gene: ARSA.
BabyScreen+ newborn screening v0.592 GCK Zornitza Stark Marked gene: GCK as ready
BabyScreen+ newborn screening v0.592 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.592 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.591 GCK Zornitza Stark reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.591 G6PC Zornitza Stark Marked gene: G6PC as ready
BabyScreen+ newborn screening v0.591 G6PC Zornitza Stark Gene: g6pc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.591 G6PC Zornitza Stark Publications for gene: G6PC were set to
Mendeliome v1.418 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
Glycogen Storage Diseases v1.1 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
BabyScreen+ newborn screening v0.590 G6PC Zornitza Stark Tag treatable tag was added to gene: G6PC.
BabyScreen+ newborn screening v0.590 G6PC Zornitza Stark reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.590 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
BabyScreen+ newborn screening v0.590 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.590 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis to Fucosidosis, MIM# 230000
BabyScreen+ newborn screening v0.589 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
BabyScreen+ newborn screening v0.588 FUCA1 Zornitza Stark Tag for review tag was added to gene: FUCA1.
Tag treatable tag was added to gene: FUCA1.
BabyScreen+ newborn screening v0.588 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.588 VIPAS39 Lilian Downie reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35761207; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.588 VLDLR Lilian Downie reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.588 VPS13A Lilian Downie reviewed gene: VPS13A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.588 VPS13B Lilian Downie reviewed gene: VPS13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.0 FBXW11 Peter McNaughton gene: FBXW11 was added
gene: FBXW11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to PMID: 36250618
Phenotypes for gene: FBXW11 were set to Autoinflammation
Review for gene: FBXW11 was set to RED
Added comment: Single patient with autoinflammatory disorder characterised by recurrent periodic fever and severe headaches. Functional studies showing increased NF-kB phosphorylation, increased p65 phosphorylation and increased IL-1B production.
Sources: Literature
BabyScreen+ newborn screening v0.588 ARSA John Christodoulou reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25987178, PMID: 23348427, PMID: 33195324; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.137 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy; aortic aneurysm
Hereditary Neuropathy - complex v0.136 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm
Mendeliome v1.418 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from peripheral neuropathy to Neuronopathy, distal hereditary motor, type X, MIM# 620080
Mendeliome v1.417 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.417 EMILIN1 Zornitza Stark reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5000 TMEM147 Zornitza Stark Phenotypes for gene: TMEM147 were changed from Neurodevelopmental disorder (MONDO:0700092), TMEM147-related to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075
Intellectual disability syndromic and non-syndromic v0.4999 TMEM147 Zornitza Stark reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.417 TMEM147 Zornitza Stark Phenotypes for gene: TMEM147 were changed from Neurodevelopmental disorder (MONDO:0700092), TMEM147-related to Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075
Mendeliome v1.416 TMEM147 Zornitza Stark reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.143 CYP26B1 Krithika Murali gene: CYP26B1 was added
gene: CYP26B1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP26B1 were set to PMID: 22019272
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM# 614416
Review for gene: CYP26B1 was set to GREEN
Added comment: Fetal death in utero reported in this condition which is associated with prominent craniofacial malformations. Prenatal shortening of the upper and lower limbs with pronounced angulation also described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CUL7 Krithika Murali changed review comment from: Severe prenatal growth restriction and shortened long bones described.

Please note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert list; to: Severe prenatal growth restriction and shortened long bones described.

Prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.

Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CUL7 Krithika Murali gene: CUL7 was added
gene: CUL7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUL7 were set to 20301654; 26850509; 17675530
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 - MIM#273750; Yakut short stature syndrome
Review for gene: CUL7 was set to GREEN
Added comment: Severe prenatal growth restriction and shortened long bones described.

Please note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert list
BabyScreen+ newborn screening v0.588 BSCL2 Alison Yeung commented on gene: BSCL2
BabyScreen+ newborn screening v0.588 CAVIN1 Alison Yeung changed review comment from: note: metreleptin available in Australia under the label of Atacand; to: note: metreleptin is available under trade name of Myalept in USA and soon to be available in Australia
Skeletal Dysplasia_Fetal v0.143 CTSK Krithika Murali gene: CTSK was added
gene: CTSK was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to PMID: 33151655
Phenotypes for gene: CTSK were set to Pycnodysostosis - MIM#265800
Review for gene: CTSK was set to GREEN
Added comment: ~30% with prenatal onset short-limbed short stature
Sources: Literature, Expert list
BabyScreen+ newborn screening v0.588 CAVIN1 Alison Yeung commented on gene: CAVIN1
BabyScreen+ newborn screening v0.588 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.588 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.587 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
BabyScreen+ newborn screening v0.587 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Changed rating: AMBER
BabyScreen+ newborn screening v0.587 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
BabyScreen+ newborn screening v0.587 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.587 CYP11A1 Zornitza Stark Tag for review was removed from gene: CYP11A1.
BabyScreen+ newborn screening v0.587 CYP11A1 Zornitza Stark changed review comment from: Well established gene-disease association. Congenital onset.

For review: should we include mono-allelic variants?; to: Well established gene-disease association. Congenital onset.

Mono-allelic variants discussed: a single family reported only. Does not meet criteria for inclusion. MOI set to bi-allelic.
BabyScreen+ newborn screening v0.587 COQ7 Zornitza Stark Classified gene: COQ7 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.587 COQ7 Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.586 COQ7 Zornitza Stark changed review comment from: Four families reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: Four families reported only.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations. However this advice applies to the whole group of related conditions, and data on this particular condition in terms of natural history and response to treatment is currently limited.
BabyScreen+ newborn screening v0.586 COQ7 Zornitza Stark edited their review of gene: COQ7: Changed rating: AMBER
BabyScreen+ newborn screening v0.586 CBS Zornitza Stark Classified gene: CBS as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.586 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.585 CBS Zornitza Stark changed review comment from: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability, for review.; to: Well established gene-disease association.

Multi-system disorder, onset in infancy.
In general, individuals appear normal at birth but have a progressive disease course if untreated. Clinical features typically manifest in the first or second decade of life. Intellectual disability may be the first recognizable sign and may present as developmental delay after the first to second year of life. Myopia typically occurs after age one with the majority of untreated individuals developing ectopia lentis by age 8. Roughly half of patients show signs of osteoporosis by their teens. Cerebrovascular events typically manifest during young adulthood, though they have been reported earlier. Thromboembolism is the major cause of early death and morbidity. Among B₆-responsive individuals, a vascular event in adolescence or adulthood is often the presenting feature.

Treatment: vitamin B6 (pyridoxine), methionine-restricted diet, folate, vitamin B12, betaine. Management guidelines PMID 27778219.

Non-genetic confirmatory testing: plasma total homocysteine and plasma amino acids

Paediatric actionable gene by ClinGen.

Note excluded from reproductive carrier screening tests due to poor mappability: downgraded to Amber for now.
BabyScreen+ newborn screening v0.585 CBS Zornitza Stark edited their review of gene: CBS: Changed rating: AMBER
BabyScreen+ newborn screening v0.585 CAVIN1 Zornitza Stark Tag for review was removed from gene: CAVIN1.
BabyScreen+ newborn screening v0.585 BSCL2 Zornitza Stark Tag for review was removed from gene: BSCL2.
BabyScreen+ newborn screening v0.585 BCHE Zornitza Stark Marked gene: BCHE as ready
BabyScreen+ newborn screening v0.585 BCHE Zornitza Stark Gene: bche has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.585 BCHE Zornitza Stark Tag for review was removed from gene: BCHE.
Tag pharmacogenomic tag was added to gene: BCHE.
BabyScreen+ newborn screening v0.585 BCHE Zornitza Stark changed review comment from: Well established gene-disease association.

Individuals are asymptomatic unless exposed to triggering agents.

Consider as a separate pharmacogenomic offering?

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

Individuals are asymptomatic unless exposed to triggering agents.

Consider as a separate pharmacogenomic offering?

Group review: preventative intervention available by placing alerts in medical records.
BabyScreen+ newborn screening v0.585 BCHE Zornitza Stark edited their review of gene: BCHE: Changed rating: GREEN
BabyScreen+ newborn screening v0.585 ATP7B Zornitza Stark Tag for review was removed from gene: ATP7B.
BabyScreen+ newborn screening v0.585 ATP7B Zornitza Stark commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable.
BabyScreen+ newborn screening v0.585 ATP7B Zornitza Stark edited their review of gene: ATP7B: Changed rating: GREEN
BabyScreen+ newborn screening v0.585 ATP7A Zornitza Stark Tag for review was removed from gene: ATP7A.
BabyScreen+ newborn screening v0.585 ATP6V1B1 Zornitza Stark Tag for review was removed from gene: ATP6V1B1.
BabyScreen+ newborn screening v0.585 ATP6V0A4 Zornitza Stark Tag for review was removed from gene: ATP6V0A4.
BabyScreen+ newborn screening v0.585 AMN Zornitza Stark Tag for review was removed from gene: AMN.
BabyScreen+ newborn screening v0.585 AKR1D1 Zornitza Stark Tag for review was removed from gene: AKR1D1.
BabyScreen+ newborn screening v0.585 AIRE Zornitza Stark Tag for review was removed from gene: AIRE.
BabyScreen+ newborn screening v0.585 AGXT Zornitza Stark Tag for review was removed from gene: AGXT.
BabyScreen+ newborn screening v0.585 ABCD1 Zornitza Stark Tag for review was removed from gene: ABCD1.
BabyScreen+ newborn screening v0.585 ABCC6 Zornitza Stark changed review comment from: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association.

Severe disorder with onset in infancy, can be fatal.

Treatment available: etidronate.

However, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity.

There are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.
BabyScreen+ newborn screening v0.585 AAAS Zornitza Stark Tag for review was removed from gene: AAAS.
Pulmonary Fibrosis_Interstitial Lung Disease v0.45 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
BabyScreen+ newborn screening v0.585 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
BabyScreen+ newborn screening v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.585 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence)
BabyScreen+ newborn screening v0.585 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.584 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ocular and Oculocutaneous Albinism v1.6 Zornitza Stark List of related panels changed from to Albinism HP:0001022
Pituitary hormone deficiency v0.30 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v1.416 CCDC34 Zornitza Stark Marked gene: CCDC34 as ready
Mendeliome v1.416 CCDC34 Zornitza Stark Gene: ccdc34 has been classified as Green List (High Evidence).
Mendeliome v1.416 CCDC34 Zornitza Stark Classified gene: CCDC34 as Green List (high evidence)
Mendeliome v1.416 CCDC34 Zornitza Stark Gene: ccdc34 has been classified as Green List (High Evidence).
Mendeliome v1.415 CCDC34 Zornitza Stark gene: CCDC34 was added
gene: CCDC34 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC34 were set to 34348960
Phenotypes for gene: CCDC34 were set to Spermatogenic failure 76, MIM# 620084
Review for gene: CCDC34 was set to GREEN
Added comment: Two unrelated individuals reported with homozygous frameshift variants. Mouse model recapitulated phenotype.
Sources: Expert list
BabyScreen+ newborn screening v0.584 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
BabyScreen+ newborn screening v0.584 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.584 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
BabyScreen+ newborn screening v0.583 FLAD1 Zornitza Stark Tag for review tag was added to gene: FLAD1.
Tag treatable tag was added to gene: FLAD1.
BabyScreen+ newborn screening v0.583 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.414 ACTN2 Bryony Thompson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17097056, 20022194, 25173926, 25224718, 22767232, 27287556, 28436997, 31333075, 31956495, 32973354, 34802252, 33500567, 36078153, 36116040; Phenotypes: intrinsic cardiomyopathy MONDO:0000591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.583 GCK John Christodoulou reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: hypoglycaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.583 G6PC John Christodoulou reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.583 FUCA1 John Christodoulou reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33266441; Phenotypes: neurodegneration, coarse facial features, grow retardation, dysostosis multiplex, angiokeratomata, recurrent URTIs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.583 FLAD1 John Christodoulou reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.583 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
BabyScreen+ newborn screening v0.583 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.583 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808
BabyScreen+ newborn screening v0.582 CCDC40 Zornitza Stark Classified gene: CCDC40 as Red List (low evidence)
BabyScreen+ newborn screening v0.582 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.581 CCDC40 Zornitza Stark reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.581 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
BabyScreen+ newborn screening v0.581 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.581 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807
BabyScreen+ newborn screening v0.580 CCDC39 Zornitza Stark Classified gene: CCDC39 as Red List (low evidence)
BabyScreen+ newborn screening v0.580 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.579 CCDC39 Zornitza Stark reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.579 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
BabyScreen+ newborn screening v0.579 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.579 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111
BabyScreen+ newborn screening v0.578 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
BabyScreen+ newborn screening v0.578 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.577 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v0.119 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Lipodystrophy_Lipoatrophy v1.7 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
BabyScreen+ newborn screening v0.577 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
BabyScreen+ newborn screening v0.577 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.577 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Mendeliome v1.414 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
BabyScreen+ newborn screening v0.577 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 to Lipodystrophy, congenital generalized, type 4, MIM# 613327
BabyScreen+ newborn screening v0.576 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
BabyScreen+ newborn screening v0.575 CAVIN1 Zornitza Stark Tag for review tag was added to gene: CAVIN1.
BabyScreen+ newborn screening v0.575 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.575 CAV3 Zornitza Stark Marked gene: CAV3 as ready
BabyScreen+ newborn screening v0.575 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.575 CAV3 Zornitza Stark Phenotypes for gene: CAV3 were changed from Caveolinopathy; Muscular dystrophy, limb-girdle, type IC to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
BabyScreen+ newborn screening v0.574 CAV3 Zornitza Stark Classified gene: CAV3 as Red List (low evidence)
BabyScreen+ newborn screening v0.574 CAV3 Zornitza Stark Gene: cav3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.573 CAV3 Zornitza Stark reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.414 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH
Mendeliome v1.413 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Mendeliome v1.412 NFAT5 Zornitza Stark Classified gene: NFAT5 as Amber List (moderate evidence)
Mendeliome v1.412 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.411 NFAT5 Zornitza Stark edited their review of gene: NFAT5: Added comment: Two additional individuals with missense variants reported in PMID 36238298: one with EBV infection with hepatitis and enterocolitis, and one with fatal HLH.; Changed rating: AMBER; Changed publications: 25667416, 36238298; Changed phenotypes: Immune deficiency disease, MONDO:0003778, NFAT5-related, Recurrent infections, Autoimmune enterocolopathy, EBV susceptibility, HLH
Disorders of immune dysregulation v0.160 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH
Disorders of immune dysregulation v0.159 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to 25667416
Disorders of immune dysregulation v0.158 NFAT5 Zornitza Stark Classified gene: NFAT5 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.158 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Marked gene: COG1 as ready
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Gene: cog1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Classified gene: COG1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Gene: cog1 has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.157 NFAT5 Peter McNaughton reviewed gene: NFAT5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36238298; Phenotypes: EBV susceptibility, HLH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.142 COG1 Krithika Murali gene: COG1 was added
gene: COG1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG1 were set to 16537452; 19008299; 17904886; 11980916; 18462449
Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg - MIM#611209
Review for gene: COG1 was set to AMBER
Added comment: IUGR known feature - but disproportionate impact on length and rhizomelia only reported in the literature in early infancy rather than prenatally.
Sources: Expert list, Literature
Cutis Laxa v1.0 Zornitza Stark promoted panel to version 1.0
Intellectual disability syndromic and non-syndromic v0.4999 PSMC1 Zornitza Stark Phenotypes for gene: PSMC1 were changed from spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
Intellectual disability syndromic and non-syndromic v0.4998 PSMC1 Zornitza Stark reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.411 PSMC1 Zornitza Stark Phenotypes for gene: PSMC1 were changed from 35861243; spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
Mendeliome v1.410 PSMC1 Zornitza Stark edited their review of gene: PSMC1: Changed phenotypes: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Publications for gene: SLC2A10 were set to
Cutis Laxa v0.25 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Cutis Laxa v0.25 RIN2 Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence).
Cutis Laxa v0.25 RIN2 Zornitza Stark Publications for gene: RIN2 were set to
Cutis Laxa v0.24 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Cutis Laxa v0.24 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Cutis Laxa v0.24 PYCR1 Zornitza Stark Publications for gene: PYCR1 were set to
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Publications for gene: PTDSS1 were set to
Cutis Laxa v0.22 PTDSS1 Zornitza Stark Mode of inheritance for gene: PTDSS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cutis Laxa v0.21 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Cutis Laxa v0.21 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Cutis Laxa v0.21 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Cutis Laxa v0.20 GORAB Zornitza Stark Marked gene: GORAB as ready
Cutis Laxa v0.20 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Cutis Laxa v0.20 GORAB Zornitza Stark Publications for gene: GORAB were set to
Cutis Laxa v0.19 ELN Zornitza Stark Marked gene: ELN as ready
Cutis Laxa v0.19 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Cutis Laxa v0.19 ELN Zornitza Stark Publications for gene: ELN were set to
Cutis Laxa v0.18 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Cutis Laxa v0.16 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Cutis Laxa v0.16 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Cutis Laxa v0.16 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome MIM#304150 to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cutis Laxa v0.13 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150 to Cutis laxa, autosomal dominant 3 (MIM# 616603); Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)
Cutis Laxa v0.12 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Cutis Laxa v0.11 Zornitza Stark List of related panels changed from to Cutis laxa HP:0000973
Craniosynostosis v1.41 Zornitza Stark List of related panels changed from to Craniosynostosis HP:0001363
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Marked gene: RORC as ready
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.126 RORC Zornitza Stark Phenotypes for gene: RORC were changed from to Immunodeficiency 42, MIM# 616622
Defects of intrinsic and innate immunity v0.125 RORC Zornitza Stark Publications for gene: RORC were set to
Defects of intrinsic and innate immunity v0.124 RORC Zornitza Stark Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.123 RORC Zornitza Stark reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.123 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Defects of intrinsic and innate immunity v0.123 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Marked gene: CYBB as ready
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.123 CYBB Zornitza Stark Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400
Defects of intrinsic and innate immunity v0.122 CYBB Zornitza Stark Publications for gene: CYBB were set to
Defects of intrinsic and innate immunity v0.121 CYBB Zornitza Stark Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.120 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome 1, MIM# 193670
Defects of intrinsic and innate immunity v0.119 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Defects of intrinsic and innate immunity v0.118 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Stationary Night Blindness v0.21 CABP4 Zornitza Stark Marked gene: CABP4 as ready
Congenital Stationary Night Blindness v0.21 CABP4 Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.21 CABP4 Zornitza Stark Publications for gene: CABP4 were set to
Congenital Stationary Night Blindness v0.20 CABP4 Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620, 33369259; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 CFB Zornitza Stark Marked gene: CFB as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.46 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924
Atypical Haemolytic Uraemic Syndrome_MPGN v0.45 CFB Zornitza Stark Publications for gene: CFB were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.44 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 CFB Zornitza Stark reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33725982, 33273796, 33126970, 31242818; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 C3 Zornitza Stark Marked gene: C3 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 C3 Zornitza Stark Gene: c3 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.43 C3 Zornitza Stark Phenotypes for gene: C3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Atypical Haemolytic Uraemic Syndrome_MPGN v0.42 C3 Zornitza Stark Publications for gene: C3 were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.41 C3 Zornitza Stark Mode of inheritance for gene: C3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.40 C3 Zornitza Stark reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18796626, 34248927, 33691638; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v1.11 Zornitza Stark List of related panels changed from to Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409
Hyperthyroidism v0.20 Zornitza Stark List of related panels changed from to Hyperthyroidism HP:0000836
Proteinuria v0.213 Zornitza Stark List of related panels changed from to Proteinuria HP:0000093
Autoinflammatory Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Autoinflammatory Disorders v0.189 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Autoinflammatory Disorders v0.188 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark commented on gene: TRNT1: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

> 10 families reported.
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark edited their review of gene: TRNT1: Changed publications: 25193871, 23553769, 29170023, 27389523
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Autoinflammatory Disorders v0.186 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Autoinflammatory Disorders v0.185 SLC29A3 Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark edited their review of gene: SLC29A3: Changed publications: 18940313, 19336477, 22238637
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark commented on gene: SLC29A3: The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID).

Multiple families reported.
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Marked gene: PLCG2 as ready
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from to Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Autoinflammatory Disorders v0.183 PLCG2 Zornitza Stark Publications for gene: PLCG2 were set to
Autoinflammatory Disorders v0.182 PLCG2 Zornitza Stark Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.181 PLCG2 Zornitza Stark reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31853824, 32671674, 22236196; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Marked gene: NLRP3 as ready
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM# 120100; Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772; CINCA syndrome, MIM#12032915 607115
Autoinflammatory Disorders v0.180 NLRP3 Zornitza Stark Publications for gene: NLRP3 were set to
Autoinflammatory Disorders v0.179 NLRP3 Zornitza Stark Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.178 NLRP3 Zornitza Stark reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12032915, 12483741, 28847925, 11687797; Phenotypes: Familial cold inflammatory syndrome 1, MIM# 120100, Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772, CINCA syndrome, MIM#12032915 607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Marked gene: IL36RN as ready
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Gene: il36rn has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from to Psoriasis 14, pustular, MIM# 614204
Autoinflammatory Disorders v0.177 IL36RN Zornitza Stark Publications for gene: IL36RN were set to
Autoinflammatory Disorders v0.176 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.175 IL36RN Zornitza Stark reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21848462, 21839423, 22903787; Phenotypes: Psoriasis 14, pustular, MIM# 614204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Marked gene: ELANE as ready
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropenia, cyclic MIM#162800
Autoinflammatory Disorders v0.174 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.173 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, cyclic MIM#162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Psoriasis 2, MIM# 602723
Autoinflammatory Disorders v0.172 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Autoinflammatory Disorders v0.171 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.170 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 34118208, 31286971, 30783801; Phenotypes: Psoriasis 2, MIM# 602723; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Autoinflammatory Disorders v0.169 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Autoinflammatory Disorders v0.168 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.167 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.167 Zornitza Stark List of related panels changed from to Fever HP:0001945
Tremors_Superpanel v1.214 Zornitza Stark List of related panels changed from to Tremor HP:0001337
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.48 Zornitza Stark List of related panels changed from to Focal cortical dysplasia HP:0032046;Hemimegalencephaly HP:0007206
Vascular Malformations_Somatic v1.8 Zornitza Stark List of related panels changed from to Abnormal vascular morphology HP:0025015
Vascular Malformations_Germline v1.10 Zornitza Stark List of related panels changed from to Abnormal vascular morphology HP:0025015
Vasculitis v0.72 Zornitza Stark List of related panels changed from to Vasculitis HP:0002633
Ventricular Fibrillation v0.5 Zornitza Stark List of related panels changed from to Ventricular arrhythmia HP:0004308
Genetic Epilepsy v0.1793 GBA Zornitza Stark Marked gene: GBA as ready
Genetic Epilepsy v0.1793 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1793 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005
Genetic Epilepsy v0.1792 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1791 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1791 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380
Genetic Epilepsy v0.1790 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to 11704758; 12325082; 12707859; 14694060; 15136689; 18263758; 25843247; 25761052
Genetic Epilepsy v0.1789 EIF2B5 Zornitza Stark Publications for gene: EIF2B5 were set to
Genetic Epilepsy v0.1788 EIF2B5 Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1787 EIF2B5 Zornitza Stark reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1787 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Genetic Epilepsy v0.1786 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Genetic Epilepsy v0.1785 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1784 CLN8 Zornitza Stark Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Genetic Epilepsy v0.1783 CLN8 Zornitza Stark Publications for gene: CLN8 were set to
Genetic Epilepsy v0.1782 CLN8 Zornitza Stark Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1781 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Genetic Epilepsy v0.1780 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Genetic Epilepsy v0.1779 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1778 CLN3 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype of this progressive neurometabolic disorder.
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1778 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to Joubert syndrome 9, MIM#612285
Genetic Epilepsy v0.1777 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Genetic Epilepsy v0.1776 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1775 CC2D2A Zornitza Stark commented on gene: CC2D2A: Seizures are a feature particularly of JBTS.
Genetic Epilepsy v0.1775 CASK Zornitza Stark Marked gene: CASK as ready
Genetic Epilepsy v0.1775 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1775 CASK Zornitza Stark Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Genetic Epilepsy v0.1774 CASK Zornitza Stark Publications for gene: CASK were set to
Genetic Epilepsy v0.1773 CASK Zornitza Stark Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1772 CASK Zornitza Stark reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1772 CACNA2D1 Zornitza Stark Marked gene: CACNA2D1 as ready
Genetic Epilepsy v0.1772 CACNA2D1 Zornitza Stark Gene: cacna2d1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.573 CBL Zornitza Stark Marked gene: CBL as ready
BabyScreen+ newborn screening v0.573 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.573 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
BabyScreen+ newborn screening v0.572 CBL Zornitza Stark Classified gene: CBL as Red List (low evidence)
BabyScreen+ newborn screening v0.572 CBL Zornitza Stark Gene: cbl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.571 CBL Zornitza Stark reviewed gene: CBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.571 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
BabyScreen+ newborn screening v0.571 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.571 CASQ2 Zornitza Stark Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
BabyScreen+ newborn screening v0.570 CASQ2 Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.569 CASQ2 Zornitza Stark Classified gene: CASQ2 as Red List (low evidence)
BabyScreen+ newborn screening v0.569 CASQ2 Zornitza Stark Gene: casq2 has been classified as Red List (Low Evidence).
Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 CASQ2 Zornitza Stark Tag treatable tag was added to gene: CASQ2.
BabyScreen+ newborn screening v0.568 CASQ2 Zornitza Stark Tag for review tag was added to gene: CASQ2.
Tag treatable tag was added to gene: CASQ2.
BabyScreen+ newborn screening v0.568 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.568 CASK Zornitza Stark Marked gene: CASK as ready
BabyScreen+ newborn screening v0.568 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.568 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation and microcephaly with pontine and cerebellar hypoplasia to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
BabyScreen+ newborn screening v0.567 CASK Zornitza Stark Mode of inheritance for gene: CASK 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)
BabyScreen+ newborn screening v0.566 CASK Zornitza Stark Classified gene: CASK as Red List (low evidence)
BabyScreen+ newborn screening v0.566 CASK Zornitza Stark Gene: cask has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.565 CASK Zornitza Stark reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.565 CARD11 Zornitza Stark Marked gene: CARD11 as ready
BabyScreen+ newborn screening v0.565 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.565 CARD11 Zornitza Stark Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, MIM# 615206 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
BabyScreen+ newborn screening v0.564 CARD11 Zornitza Stark reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.564 CHD7 Zornitza Stark Marked gene: CHD7 as ready
BabyScreen+ newborn screening v0.564 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.564 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800
BabyScreen+ newborn screening v0.563 CHD7 Zornitza Stark Classified gene: CHD7 as Red List (low evidence)
BabyScreen+ newborn screening v0.563 CHD7 Zornitza Stark Gene: chd7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.562 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.26 CA2 Zornitza Stark Marked gene: CA2 as ready
Osteopetrosis v0.26 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Osteopetrosis v0.26 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Osteopetrosis v0.25 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.24 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.410 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
BabyScreen+ newborn screening v0.562 CA2 Zornitza Stark Marked gene: CA2 as ready
BabyScreen+ newborn screening v0.562 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.562 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
BabyScreen+ newborn screening v0.561 CA2 Zornitza Stark Tag treatable tag was added to gene: CA2.
BabyScreen+ newborn screening v0.561 CA2 Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.561 CAPN3 Zornitza Stark Marked gene: CAPN3 as ready
BabyScreen+ newborn screening v0.561 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.561 CAPN3 Zornitza Stark Phenotypes for gene: CAPN3 were changed from Muscular dystrophy, limb-girdle, type 2A to Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600
BabyScreen+ newborn screening v0.560 CAPN3 Zornitza Stark Classified gene: CAPN3 as Red List (low evidence)
BabyScreen+ newborn screening v0.560 CAPN3 Zornitza Stark Gene: capn3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.559 CAPN3 Zornitza Stark reviewed gene: CAPN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.559 CACNA1F Zornitza Stark Marked gene: CACNA1F as ready
BabyScreen+ newborn screening v0.559 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.559 CACNA1F Zornitza Stark Phenotypes for gene: CACNA1F were changed from Night blindness, congenital stationary (complete), 1A, X-linked to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
BabyScreen+ newborn screening v0.558 CACNA1F Zornitza Stark Classified gene: CACNA1F as Red List (low evidence)
BabyScreen+ newborn screening v0.558 CACNA1F Zornitza Stark Gene: cacna1f has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.557 CACNA1F Zornitza Stark reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.557 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
BabyScreen+ newborn screening v0.557 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.557 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Episodic ataxia, type 2 to Episodic ataxia, type 2, MIM# 108500
BabyScreen+ newborn screening v0.556 CACNA1A Zornitza Stark Classified gene: CACNA1A as Red List (low evidence)
BabyScreen+ newborn screening v0.556 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.555 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Episodic ataxia, type 2, MIM# 108500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.555 CABP2 Zornitza Stark Marked gene: CABP2 as ready
BabyScreen+ newborn screening v0.555 CABP2 Zornitza Stark Gene: cabp2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.555 CABP2 Zornitza Stark reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.222 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from Bent bone dysplasia to Bent bone dysplasia syndrome 2, MIM# 620076
Skeletal dysplasia v0.221 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bent bone dysplasia syndrome 2, MIM# 620076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.410 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay to Bent bone dysplasia syndrome 2, MIM# 620076; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay
Mendeliome v1.409 LAMA5 Zornitza Stark edited their review of gene: LAMA5: Changed phenotypes: Nephrotic syndrome, type 26 620049, Bent bone dysplasia syndrome 2, MIM# 620076
Intellectual disability syndromic and non-syndromic v0.4998 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures; dysmorphic features to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Intellectual disability syndromic and non-syndromic v0.4997 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Genetic Epilepsy v0.1772 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Genetic Epilepsy v0.1771 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Mendeliome v1.409 HNRNPR Zornitza Stark Phenotypes for gene: HNRNPR were changed from Intellectual disability; seizures to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Mendeliome v1.408 HNRNPR Zornitza Stark edited their review of gene: HNRNPR: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073
Mendeliome v1.408 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 to Spinocerebellar ataxia 27, MIM# 609307; Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Mendeliome v1.407 FGF14 Zornitza Stark edited their review of gene: FGF14: Changed phenotypes: Spinocerebellar ataxia 27, MIM# 609307, Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Intellectual disability syndromic and non-syndromic v0.4997 FGF14 Zornitza Stark Marked gene: FGF14 as ready
Intellectual disability syndromic and non-syndromic v0.4997 FGF14 Zornitza Stark Gene: fgf14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4997 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27, MIM# 609307; Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Intellectual disability syndromic and non-syndromic v0.4996 FGF14 Zornitza Stark Mode of inheritance for gene: FGF14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4995 FGF14 Zornitza Stark edited their review of gene: FGF14: Changed phenotypes: Spinocerebellar ataxia 27, MIM# 609307, Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Mendeliome v1.407 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227 to Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003
Mendeliome v1.406 FGF14 Zornitza Stark reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Classified gene: CHST3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.555 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Paragangliomas 1, with or without deafness, MIM# 168000
BabyScreen+ newborn screening v0.554 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.553 SDHD Zornitza Stark reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Mendeliome v1.406 SCNN1A Zornitza Stark Tag treatable tag was added to gene: SCNN1A.
BabyScreen+ newborn screening v0.553 SCNN1A Zornitza Stark Tag treatable tag was added to gene: SCNN1A.
BabyScreen+ newborn screening v0.553 SCN8A Zornitza Stark Tag for review tag was added to gene: SCN8A.
BabyScreen+ newborn screening v0.553 GATA3 Zornitza Stark Marked gene: GATA3 as ready
BabyScreen+ newborn screening v0.553 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.553 GATA3 Zornitza Stark Tag treatable tag was added to gene: GATA3.
BabyScreen+ newborn screening v0.553 GATA3 Zornitza Stark reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.157 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Mendeliome v1.406 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Interstitial Lung Disease v1.0 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Bone Marrow Failure v1.23 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
BabyScreen+ newborn screening v0.553 GATA2 Zornitza Stark Marked gene: GATA2 as ready
BabyScreen+ newborn screening v0.553 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.553 GATA2 Zornitza Stark Publications for gene: GATA2 were set to PMID: 25397911, 30047422
BabyScreen+ newborn screening v0.552 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
BabyScreen+ newborn screening v0.552 GAN Zornitza Stark Marked gene: GAN as ready
BabyScreen+ newborn screening v0.552 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.552 GAN Zornitza Stark Phenotypes for gene: GAN were changed from Giant axonal neuropathy to Giant axonal neuropathy-1, MIM#256850
BabyScreen+ newborn screening v0.551 GAN Zornitza Stark Classified gene: GAN as Red List (low evidence)
BabyScreen+ newborn screening v0.551 GAN Zornitza Stark Gene: gan has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.550 GAN Zornitza Stark reviewed gene: GAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.24 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Dystonia - complex v0.217 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Intellectual disability syndromic and non-syndromic v0.4995 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Regression v0.507 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Marked gene: GAMT as ready
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1771 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Genetic Epilepsy v0.1770 GAMT Zornitza Stark Publications for gene: GAMT were set to
Genetic Epilepsy v0.1769 GAMT Zornitza Stark Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1768 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Mendeliome v1.406 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
BabyScreen+ newborn screening v0.550 GAMT Zornitza Stark Marked gene: GAMT as ready
BabyScreen+ newborn screening v0.550 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.550 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
BabyScreen+ newborn screening v0.550 GALNS Zornitza Stark Marked gene: GALNS as ready
BabyScreen+ newborn screening v0.550 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Skeletal dysplasia v0.221 GALNS Zornitza Stark Marked gene: GALNS as ready
Skeletal dysplasia v0.221 GALNS Zornitza Stark Gene: galns has been classified as Green List (High Evidence).
Skeletal dysplasia v0.221 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659
Skeletal dysplasia v0.220 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Lysosomal Storage Disorder v1.7 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Mendeliome v1.406 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
Hydrops fetalis v0.291 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
BabyScreen+ newborn screening v0.550 GALNS Zornitza Stark Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA to Mucopolysaccharidosis IVA, MIM#253000
BabyScreen+ newborn screening v0.549 GALNS Zornitza Stark Tag treatable tag was added to gene: GALNS.
BabyScreen+ newborn screening v0.549 GALC Zornitza Stark Marked gene: GALC as ready
BabyScreen+ newborn screening v0.549 GALC Zornitza Stark Gene: galc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.549 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Krabbe disease to Krabbe disease, MIM#245200
BabyScreen+ newborn screening v0.548 GALC Zornitza Stark Tag treatable tag was added to gene: GALC.
Mendeliome v1.406 IMPA1 Bryony Thompson Marked gene: IMPA1 as ready
Mendeliome v1.406 IMPA1 Bryony Thompson Gene: impa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.406 IMPA1 Bryony Thompson Classified gene: IMPA1 as Amber List (moderate evidence)
Mendeliome v1.406 IMPA1 Bryony Thompson Gene: impa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.405 IMPA1 Bryony Thompson gene: IMPA1 was added
gene: IMPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IMPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPA1 were set to 26416544; 24554717; 32839513; 17460611
Phenotypes for gene: IMPA1 were set to intellectual disability, autosomal recessive 59 MONDO:0015020
Review for gene: IMPA1 was set to AMBER
Added comment: A homozygous frameshift variant identified in a large Brazilian consanguineous family with ID, also supporting functional studies and null mouse models.
Sources: Literature
Skeletal Dysplasia_Fetal v0.140 CHST3 Krithika Murali gene: CHST3 was added
gene: CHST3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 15368507; 17618475
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095
Review for gene: CHST3 was set to GREEN
Added comment: Severe short stature of prenatal onset with disproportionately shortened limbs.
Sources: Literature, Expert list
Mendeliome v1.404 ARNT2 Bryony Thompson Marked gene: ARNT2 as ready
Mendeliome v1.404 ARNT2 Bryony Thompson Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.404 ARNT2 Bryony Thompson Classified gene: ARNT2 as Amber List (moderate evidence)
Mendeliome v1.404 ARNT2 Bryony Thompson Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.403 ARNT2 Bryony Thompson gene: ARNT2 was added
gene: ARNT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 11381139; 24022475
Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome MONDO:0014404
Review for gene: ARNT2 was set to AMBER
Added comment: A homozygous frameshift (c.1373_1374dupTC) in six affected children from a highly consanguineous family with a syndromic phenotype including microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. In a Arnt2(-/-) mouse model embryos die perinatally and exhibit impaired hypothalamic development.
Sources: Literature
BabyScreen+ newborn screening v0.548 SDHD Seb Lunke Marked gene: SDHD as ready
BabyScreen+ newborn screening v0.548 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.548 SDHD Seb Lunke Phenotypes for gene: SDHD were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
BabyScreen+ newborn screening v0.547 SDHD Seb Lunke Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.546 SDHD Seb Lunke Classified gene: SDHD as Red List (low evidence)
BabyScreen+ newborn screening v0.546 SDHD Seb Lunke Gene: sdhd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.545 SDHD Seb Lunke reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.545 C9 Zornitza Stark Marked gene: C9 as ready
BabyScreen+ newborn screening v0.545 C9 Zornitza Stark Gene: c9 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.545 C9 Zornitza Stark Tag treatable tag was added to gene: C9.
Skeletal Dysplasia_Fetal v0.140 CCDC8 Krithika Murali gene: CCDC8 was added
gene: CCDC8 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3 - MIM#614205
Review for gene: CCDC8 was set to GREEN
Added comment: Severe short stature with relative macrocephaly/preserved HC noted antenatally and at birth.
Sources: Literature, Expert list
BabyScreen+ newborn screening v0.545 C9 Zornitza Stark reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.545 C8B Zornitza Stark Marked gene: C8B as ready
BabyScreen+ newborn screening v0.545 C8B Zornitza Stark Gene: c8b has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.545 C8B Zornitza Stark reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.545 C8A Zornitza Stark Marked gene: C8A as ready
BabyScreen+ newborn screening v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.545 C8A Zornitza Stark Classified gene: C8A as Red List (low evidence)
BabyScreen+ newborn screening v0.545 C8A Zornitza Stark Gene: c8a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.544 C8A Zornitza Stark reviewed gene: C8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.544 C7 Zornitza Stark Marked gene: C7 as ready
BabyScreen+ newborn screening v0.544 C7 Zornitza Stark Gene: c7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.544 C7 Zornitza Stark Tag treatable tag was added to gene: C7.
BabyScreen+ newborn screening v0.544 C7 Zornitza Stark reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1768 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Developmental and epileptic encephalopathy 42, MIM# 617106
Genetic Epilepsy v0.1767 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Genetic Epilepsy v0.1766 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1765 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1765 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1764 CACNA1A Zornitza Stark Classified gene: CACNA1A as Green List (high evidence)
Genetic Epilepsy v0.1764 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1763 CACNA1A Zornitza Stark reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1763 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1762 CACNA1A Zornitza Stark Classified gene: CACNA1A as Amber List (moderate evidence)
Genetic Epilepsy v0.1762 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1761 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Genetic Epilepsy v0.1761 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Added comment: Comment when marking as ready: Seizures are part of the phenotype.
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1761 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome MIM#218340
Genetic Epilepsy v0.1760 C12orf57 Zornitza Stark Publications for gene: C12orf57 were set to
Genetic Epilepsy v0.1759 C12orf57 Zornitza Stark Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1758 BTD Zornitza Stark Marked gene: BTD as ready
Genetic Epilepsy v0.1758 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1758 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260
Genetic Epilepsy v0.1757 BTD Zornitza Stark Publications for gene: BTD were set to
Genetic Epilepsy v0.1756 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1755 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Genetic Epilepsy v0.1754 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Genetic Epilepsy v0.1753 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1752 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Genetic Epilepsy v0.1751 BCS1L Zornitza Stark Publications for gene: BCS1L were set to 24172246; 17314340; 9545407
Genetic Epilepsy v0.1750 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
BabyScreen+ newborn screening v0.544 SCO2 Seb Lunke Marked gene: SCO2 as ready
BabyScreen+ newborn screening v0.544 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.544 SCO2 Seb Lunke Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377
BabyScreen+ newborn screening v0.543 SCO2 Seb Lunke Classified gene: SCO2 as Red List (low evidence)
BabyScreen+ newborn screening v0.543 SCO2 Seb Lunke Gene: sco2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.542 SCO2 Seb Lunke reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1749 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1748 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Genetic Epilepsy v0.1747 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Genetic Epilepsy v0.1746 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1745 BCKDHB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, seizures are part of the phenotype.
BabyScreen+ newborn screening v0.542 SCNN1B Seb Lunke Marked gene: SCNN1B as ready
BabyScreen+ newborn screening v0.542 SCNN1B Seb Lunke Gene: scnn1b has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.542 SCNN1B Seb Lunke reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.542 SCNN1A Seb Lunke Marked gene: SCNN1A as ready
BabyScreen+ newborn screening v0.542 SCNN1A Seb Lunke Gene: scnn1a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.542 SCNN1A Seb Lunke Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, MIM#264350 to Pseudohypoaldosteronism, type I, MIM# 264350
BabyScreen+ newborn screening v0.541 SCNN1A Seb Lunke reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 SCN8A Seb Lunke Marked gene: SCN8A as ready
BabyScreen+ newborn screening v0.541 SCN8A Seb Lunke Gene: scn8a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 SCN8A Seb Lunke reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27559564; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v1.0 Bryony Thompson promoted panel to version 1.0
Ataxia - adult onset v0.177 SETX Bryony Thompson Marked gene: SETX as ready
Ataxia - adult onset v0.177 SETX Bryony Thompson Gene: setx has been classified as Green List (High Evidence).
Ataxia - adult onset v0.177 SETX Bryony Thompson Publications for gene: SETX were set to
Ataxia - adult onset v0.176 SETX Bryony Thompson reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 14770181, 20301333; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0018996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - adult onset v0.176 PRNP Bryony Thompson Marked gene: PRNP as ready
Ataxia - adult onset v0.176 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Ataxia - adult onset v0.176 PRNP Bryony Thompson Publications for gene: PRNP were set to
Ataxia - paediatric v1.0 Bryony Thompson promoted panel to version 1.0
Ataxia - adult onset v0.175 PRNP Bryony Thompson reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 2564168, 34324063, 20301407; Phenotypes: Inherited Creutzfeldt-Jakob disease MONDO:0007403, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ataxia - paediatric v0.349 NPC1 Bryony Thompson Marked gene: NPC1 as ready
Ataxia - paediatric v0.349 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.349 NPC1 Bryony Thompson Publications for gene: NPC1 were set to
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Marked gene: NPC1 as ready
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Classified gene: NPC1 as Green List (high evidence)
Ataxia - adult onset v0.175 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.348 NPC1 Bryony Thompson reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10480349, 17003072, 25497598, 33228797; Phenotypes: Niemann-Pick disease, type C1 MONDO:0009757, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia - adult onset v0.174 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Ataxia - adult onset. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 10480349; 17003072; 25497598; 33228797
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 MONDO:0009757; ataxia
Review for gene: NPC1 was set to GREEN
gene: NPC1 was marked as current diagnostic
Added comment: Ataxia can be a prominent and presenting feature of Niemann-Pick disease. Both paediatric and adult-onset ataxia has been reported with high prevalence.
Sources: Literature
Early-onset Dementia v0.158 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Early-onset Dementia v0.158 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Early-onset Dementia v0.158 ITM2B Bryony Thompson Phenotypes for gene: ITM2B were changed from to Cerebral amyloid angiopathy MONDO:0005620
Early-onset Dementia v0.157 ITM2B Bryony Thompson Publications for gene: ITM2B were set to
Early-onset Dementia v0.156 ITM2B Bryony Thompson Mode of inheritance for gene: ITM2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.173 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Ataxia - adult onset v0.173 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Ataxia - adult onset v0.173 ITM2B Bryony Thompson Publications for gene: ITM2B were set to
Ataxia - adult onset v0.172 ITM2B Bryony Thompson reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10391242, 10781099, 33814452; Phenotypes: Cerebral amyloid angiopathy MONDO:0005620, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.155 ITM2B Bryony Thompson reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10391242, 10781099, 20385796, 33814452; Phenotypes: Cerebral amyloid angiopathy MONDO:0005620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
BabyScreen+ newborn screening v0.541 GATA3 Alison Yeung reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.541 GATA2 Alison Yeung reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.541 GAN Alison Yeung reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 GAMT Alison Yeung reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 GALNS Alison Yeung reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 GALC Alison Yeung reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.348 HARS Bryony Thompson edited their review of gene: HARS: Changed publications: 32333447
Ataxia - adult onset v0.172 SEPSECS Bryony Thompson Marked gene: SEPSECS as ready
Ataxia - adult onset v0.172 SEPSECS Bryony Thompson Gene: sepsecs has been classified as Red List (Low Evidence).
Growth failure v1.46 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072
Growth failure v1.45 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4995 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072
Intellectual disability syndromic and non-syndromic v0.4994 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.402 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diamond Blackfan anaemia v1.5 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Bone Marrow Failure v1.23 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Bone Marrow Failure v1.22 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.72 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Mendeliome v1.402 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
BabyScreen+ newborn screening v0.541 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
BabyScreen+ newborn screening v0.541 C6 Zornitza Stark Marked gene: C6 as ready
BabyScreen+ newborn screening v0.541 C6 Zornitza Stark Gene: c6 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 C6 Zornitza Stark reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 FH Zornitza Stark Marked gene: FH as ready
BabyScreen+ newborn screening v0.541 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 FH Zornitza Stark Tag treatable tag was added to gene: FH.
BabyScreen+ newborn screening v0.541 FH Zornitza Stark reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 FBP1 Zornitza Stark Marked gene: FBP1 as ready
BabyScreen+ newborn screening v0.541 FBP1 Zornitza Stark Gene: fbp1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 FBP1 Zornitza Stark reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Liver Failure_Paediatric v1.19 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cardiomyopathy_Paediatric v0.134 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Hereditary Neuropathy - complex v0.136 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Mendeliome v1.402 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cholestasis v0.237 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
BabyScreen+ newborn screening v0.541 FAH Zornitza Stark Marked gene: FAH as ready
BabyScreen+ newborn screening v0.541 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
BabyScreen+ newborn screening v0.541 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4994 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Regression v0.507 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Mitochondrial disease v0.841 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Genetic Epilepsy v0.1745 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Mendeliome v1.402 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Fatty Acid Oxidation Defects v1.8 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
BabyScreen+ newborn screening v0.541 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
BabyScreen+ newborn screening v0.541 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
BabyScreen+ newborn screening v0.541 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 ETHE1 Zornitza Stark changed review comment from: Well established gene-disease association.

Onset in infancy.; to: Well established gene-disease association.

Onset in infancy. Typically high mortality.
BabyScreen+ newborn screening v0.541 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1745 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Genetic Epilepsy v0.1744 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Genetic Epilepsy v0.1743 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1742 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1741 BCKDHA Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Marked gene: ATRX as ready
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1741 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580
Genetic Epilepsy v0.1740 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1739 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Marked gene: ATP6AP2 as ready
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Gene: atp6ap2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.140 IMPAD1 Krithika Murali gene: IMPAD1 was added
gene: IMPAD1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPAD1 were set to 34989141
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078
Review for gene: IMPAD1 was set to GREEN
Added comment: Disproportionately shortened length prenatally with shortened limbs described.
Sources: Expert list, Literature
Genetic Epilepsy v0.1739 ATP6AP2 Zornitza Stark Phenotypes for gene: ATP6AP2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Genetic Epilepsy v0.1738 ATP6AP2 Zornitza Stark Publications for gene: ATP6AP2 were set to
Genetic Epilepsy v0.1737 ATP6AP2 Zornitza Stark Mode of pathogenicity for gene: ATP6AP2 was changed from Other to Other
Skeletal Dysplasia_Fetal v0.140 B4GALT7 Krithika Murali gene: B4GALT7 was added
gene: B4GALT7 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 31278392
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070
Review for gene: B4GALT7 was set to GREEN
Added comment: Perinatal lethal skeletal dysplasia described
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.140 B3GLCT Krithika Murali gene: B3GLCT was added
gene: B3GLCT was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 23161355
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome-MIM#261540
Review for gene: B3GLCT was set to GREEN
Added comment: IUGR with shortening of the long bones diagnosed antenatally reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.140 B3GAT3 Krithika Murali gene: B3GAT3 was added
gene: B3GAT3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 26754439; 31988067
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600
Added comment: Antenatal presentation with shortened and bowed long bones described.
Sources: Expert list, Literature
Genetic Epilepsy v0.1736 ATP6AP2 Zornitza Stark Mode of pathogenicity for gene: ATP6AP2 was changed from to Other
Genetic Epilepsy v0.1735 ATP6AP2 Zornitza Stark Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Marked gene: ASPA as ready
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1734 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1733 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1732 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900; disorder of amino acid metabolism
Genetic Epilepsy v0.1731 ASPA Zornitza Stark Publications for gene: ASPA were set to
Genetic Epilepsy v0.1730 ASPA Zornitza Stark Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1729 ARX Zornitza Stark Marked gene: ARX as ready
Genetic Epilepsy v0.1729 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1729 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004 to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Genetic Epilepsy v0.1728 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Genetic Epilepsy v0.1727 ARX Zornitza Stark Publications for gene: ARX were set to
Genetic Epilepsy v0.1726 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Marked gene: ARV1 as ready
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Gene: arv1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1725 ARV1 Zornitza Stark Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM# 617020
Genetic Epilepsy v0.1724 ARV1 Zornitza Stark Publications for gene: ARV1 were set to
Genetic Epilepsy v0.1723 ARV1 Zornitza Stark Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1722 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900
Genetic Epilepsy v0.1721 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1720 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Skeletal Dysplasia_Fetal v0.140 ALG9 Krithika Murali gene: ALG9 was added
gene: ALG9 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 28932688; 25966638; 26453364
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Review for gene: ALG9 was set to GREEN
Added comment: Lethal skeletal dysplasia in utero reported
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.140 ALG3 Krithika Murali gene: ALG3 was added
gene: ALG3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 26126960; 34441372
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id - MIM#26126960
Review for gene: ALG3 was set to GREEN
Added comment: Antenatal presentation with IUGR and short long bones/limbs reported.
Sources: Expert list, Literature
Genetic Epilepsy v0.1719 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Genetic Epilepsy v0.1718 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1717 AMT Zornitza Stark Marked gene: AMT as ready
Genetic Epilepsy v0.1717 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1717 AMT Zornitza Stark Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Genetic Epilepsy v0.1716 AMT Zornitza Stark Publications for gene: AMT were set to
Genetic Epilepsy v0.1715 AMT Zornitza Stark Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1714 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809
Genetic Epilepsy v0.1713 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Marked gene: ALPL as ready
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1712 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR
Genetic Epilepsy v0.1711 ALPL Zornitza Stark Publications for gene: ALPL were set to
Genetic Epilepsy v0.1710 ALPL Zornitza Stark Mode of pathogenicity for gene: ALPL was changed from to Other
Genetic Epilepsy v0.1709 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1708 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Genetic Epilepsy v0.1707 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Genetic Epilepsy v0.1706 AKT3 Zornitza Stark Mode of pathogenicity for gene: AKT3 was changed from to Other
Genetic Epilepsy v0.1705 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Marked gene: ADSL as ready
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1704 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050
Genetic Epilepsy v0.1703 ADSL Zornitza Stark Publications for gene: ADSL were set to
Genetic Epilepsy v0.1702 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Marked gene: ADAR as ready
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1701 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400
Genetic Epilepsy v0.1700 ADAR Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.402 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Mendeliome v1.402 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Mendeliome v1.402 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Mendeliome v1.402 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Mendeliome v1.401 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Ataxia - paediatric v0.347 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.346 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Genetic Epilepsy v0.1699 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1698 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4994 FRMD5 Zornitza Stark Marked gene: FRMD5 as ready
Intellectual disability syndromic and non-syndromic v0.4994 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4994 FRMD5 Zornitza Stark Phenotypes for gene: FRMD5 were changed from to Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Intellectual disability syndromic and non-syndromic v0.4993 FRMD5 Zornitza Stark Publications for gene: FRMD5 were set to
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, FRMD5-related
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark edited their review of gene: FRMD5: Changed publications: 36206744
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark Classified gene: FRMD5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4992 FRMD5 Zornitza Stark Gene: frmd5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4991 FRMD5 Zornitza Stark gene: FRMD5 was added
gene: FRMD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: FRMD5 was set to GREEN
Added comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model.
Sources: Literature
Mendeliome v1.400 GIGYF1 Elena Savva Publications for gene: GIGYF1 were set to 33057194; 35917186
Mendeliome v1.400 GIGYF1 Elena Savva Publications for gene: GIGYF1 were set to 33057194
Mendeliome v1.399 GIGYF1 Elena Savva Phenotypes for gene: GIGYF1 were changed from Developmental disorder to Autism, Intellectual disability, GIGYF1-related (MONDO#0001071)
Intellectual disability syndromic and non-syndromic v0.4990 GIGYF1 Elena Savva Phenotypes for gene: GIGYF1 were changed from Developmental disorder to Autism, Intellectual disability, GIGYF1-related (MONDO#0001071)
Intellectual disability syndromic and non-syndromic v0.4990 GIGYF1 Elena Savva Publications for gene: GIGYF1 were set to 33057194
Mendeliome v1.398 GIGYF1 Elena Savva Classified gene: GIGYF1 as Green List (high evidence)
Mendeliome v1.398 GIGYF1 Elena Savva Gene: gigyf1 has been classified as Green List (High Evidence).
Mendeliome v1.397 GIGYF1 Elena Savva reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33057194; Phenotypes: Intellectual disability, GIGYF1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability syndromic and non-syndromic v0.4989 GIGYF1 Elena Savva Classified gene: GIGYF1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4989 GIGYF1 Elena Savva Gene: gigyf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4988 GIGYF1 Elena Savva reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35917186; Phenotypes: Autism, Intellectual disability, GIGYF1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1697 AMPD2 Bryony Thompson Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson commented on gene: AMPD2
Genetic Epilepsy v0.1696 AMPD2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson Deleted their review
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson commented on gene: ATP1A2
Genetic Epilepsy v0.1696 ATP1A2 Bryony Thompson Deleted their review
BabyScreen+ newborn screening v0.541 FH John Christodoulou reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: mitochondrial encephalopathy, failure to thrive, developmental delay, hypotonia, cerebral atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 FBP1 John Christodoulou reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fasting hypoglycemia, metabolic acidosis, ketosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 FAH John Christodoulou reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 ETHE1 John Christodoulou reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: petechiae, acrocyanosis, chronic diarrhoea, ID, regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.541 DPAGT1 Zornitza Stark Marked gene: DPAGT1 as ready
BabyScreen+ newborn screening v0.541 DPAGT1 Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.541 DPAGT1 Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, MIM#614750 to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750
BabyScreen+ newborn screening v0.540 DPAGT1 Zornitza Stark Tag for review tag was added to gene: DPAGT1.
BabyScreen+ newborn screening v0.540 DPAGT1 Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.540 DOLK Zornitza Stark Marked gene: DOLK as ready
BabyScreen+ newborn screening v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.540 DOLK Zornitza Stark Classified gene: DOLK as Red List (low evidence)
BabyScreen+ newborn screening v0.540 DOLK Zornitza Stark Gene: dolk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.539 DOLK Zornitza Stark changed review comment from: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.; to: Established gene-disease association.

Congenital onset. Severe multi-system disorder, mortality in infancy.

No specific treatment.
BabyScreen+ newborn screening v0.539 DOLK Zornitza Stark reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.539 DLD Zornitza Stark Marked gene: DLD as ready
BabyScreen+ newborn screening v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.539 DLD Zornitza Stark Classified gene: DLD as Red List (low evidence)
BabyScreen+ newborn screening v0.539 DLD Zornitza Stark Gene: dld has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.538 DLD Zornitza Stark reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Marked gene: TOMM7 as ready
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.397 TOMM7 Zornitza Stark Phenotypes for gene: TOMM7 were changed from growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911 to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related
Mendeliome v1.396 TOMM7 Zornitza Stark reviewed gene: TOMM7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial disorder MONDO:0004069, TOMM7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Classified gene: TOMM7 as Amber List (moderate evidence)
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.840 TOMM7 Zornitza Stark gene: TOMM7 was added
gene: TOMM7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Phenotypes for gene: TOMM7 were set to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related
Review for gene: TOMM7 was set to AMBER
Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4988 HECW2 Zornitza Stark Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4987 HECW2 Zornitza Stark changed review comment from: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)
PMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.
PMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.; to: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)
PMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.
PMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.

Association with bi-allelic variants is AMBER.
Intellectual disability syndromic and non-syndromic v0.4987 HECW2 Zornitza Stark edited their review of gene: HECW2: Added comment: Two probands reported with biallelic variants and putative loss of function mechanism of disease (compared to the established gain of function monoallelic disease)
PMID: 35753050 - Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies with a homozygous splice variant that causes in-frame elimination of exon 22 (c.3917+2_3917+12delinsG r.3766_3917+1del p.Leu1256_Trp1306del). Protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of disease.
PMID: 35487419 - homozygous nonsense variant (c.736C>T; p.Arg246*) identified in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head.; Changed publications: 29807643, 29395664, 27334371, 27389779, 35753050, 35487419; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Marked gene: FAM20B as ready
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Gene: fam20b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Classified gene: FAM20B as Amber List (moderate evidence)
Skeletal dysplasia v0.220 FAM20B Zornitza Stark Gene: fam20b has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.219 FAM20B Zornitza Stark gene: FAM20B was added
gene: FAM20B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802
Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426
Review for gene: FAM20B was set to AMBER
Added comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities.
Sources: Literature
BabyScreen+ newborn screening v0.538 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
BabyScreen+ newborn screening v0.538 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.538 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome to Smith-Lemli-Opitz syndrome, MIM#270400
BabyScreen+ newborn screening v0.537 DHCR7 Zornitza Stark Classified gene: DHCR7 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.537 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.536 DHCR7 Zornitza Stark Tag for review tag was added to gene: DHCR7.
BabyScreen+ newborn screening v0.536 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.536 DGUOK Zornitza Stark Marked gene: DGUOK as ready
BabyScreen+ newborn screening v0.536 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.536 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
BabyScreen+ newborn screening v0.535 DGUOK Zornitza Stark Classified gene: DGUOK as Red List (low evidence)
BabyScreen+ newborn screening v0.535 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.534 DGUOK Zornitza Stark Tag for review tag was added to gene: DGUOK.
BabyScreen+ newborn screening v0.534 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - complex v0.217 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Neurotransmitter Defects v1.5 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Mendeliome v1.396 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
BabyScreen+ newborn screening v0.534 DDC Zornitza Stark Marked gene: DDC as ready
BabyScreen+ newborn screening v0.534 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.534 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
BabyScreen+ newborn screening v0.534 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.396 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
Congenital Diarrhoea v1.11 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
BabyScreen+ newborn screening v0.534 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
BabyScreen+ newborn screening v0.534 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.534 DGAT1 Zornitza Stark Tag treatable tag was added to gene: DGAT1.
BabyScreen+ newborn screening v0.534 DGAT1 Zornitza Stark reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.534 D2HGDH Zornitza Stark Marked gene: D2HGDH as ready
BabyScreen+ newborn screening v0.534 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.534 D2HGDH Zornitza Stark Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria to D-2-hydroxyglutaric aciduria MIM#600721
BabyScreen+ newborn screening v0.533 D2HGDH Zornitza Stark Classified gene: D2HGDH as Red List (low evidence)
BabyScreen+ newborn screening v0.533 D2HGDH Zornitza Stark Gene: d2hgdh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.532 D2HGDH Zornitza Stark reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.38 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
Mendeliome v1.396 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
BabyScreen+ newborn screening v0.532 CYP27B1 Zornitza Stark Marked gene: CYP27B1 as ready
BabyScreen+ newborn screening v0.532 CYP27B1 Zornitza Stark Gene: cyp27b1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.532 CYP27B1 Zornitza Stark Phenotypes for gene: CYP27B1 were changed from Vitamin D-dependent rickets, type I to Vitamin D-dependent rickets, type I MIM#264700
BabyScreen+ newborn screening v0.531 CYP27B1 Zornitza Stark Tag treatable tag was added to gene: CYP27B1.
BabyScreen+ newborn screening v0.531 CYP27B1 Zornitza Stark reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.396 CYP27A1 Zornitza Stark Tag treatable tag was added to gene: CYP27A1.
BabyScreen+ newborn screening v0.531 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
BabyScreen+ newborn screening v0.531 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.531 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, MIM# 213700
BabyScreen+ newborn screening v0.530 CYP27A1 Zornitza Stark Classified gene: CYP27A1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.530 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.529 CYP27A1 Zornitza Stark Tag for review tag was added to gene: CYP27A1.
Tag treatable tag was added to gene: CYP27A1.
BabyScreen+ newborn screening v0.529 CYP27A1 Zornitza Stark edited their review of gene: CYP27A1: Changed rating: RED
BabyScreen+ newborn screening v0.529 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Mendeliome v1.396 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
Differences of Sex Development v0.268 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
BabyScreen+ newborn screening v0.529 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
BabyScreen+ newborn screening v0.529 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.529 CYP17A1 Zornitza Stark Tag treatable tag was added to gene: CYP17A1.
BabyScreen+ newborn screening v0.529 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.5 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Mendeliome v1.396 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
BabyScreen+ newborn screening v0.529 CYP11B2 Zornitza Stark reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.529 CYP11A1 Zornitza Stark Tag for review tag was added to gene: CYP11A1.
Tag treatable tag was added to gene: CYP11A1.
BabyScreen+ newborn screening v0.529 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v1.5 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Mendeliome v1.396 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Differences of Sex Development v0.268 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
BabyScreen+ newborn screening v0.529 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
BabyScreen+ newborn screening v0.529 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.529 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
BabyScreen+ newborn screening v0.528 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
BabyScreen+ newborn screening v0.528 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.24 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Red cell disorders v1.18 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Proteinuria v0.212 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Mendeliome v1.396 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
BabyScreen+ newborn screening v0.528 CUBN Zornitza Stark Marked gene: CUBN as ready
BabyScreen+ newborn screening v0.528 CUBN Zornitza Stark Gene: cubn has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.528 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
BabyScreen+ newborn screening v0.528 CUBN Zornitza Stark reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Imerslund-Grasbeck syndrome 1 MIM#261100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.528 CTSD Zornitza Stark Marked gene: CTSD as ready
BabyScreen+ newborn screening v0.528 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.528 CTSD Zornitza Stark Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
BabyScreen+ newborn screening v0.527 CTSD Zornitza Stark Classified gene: CTSD as Red List (low evidence)
BabyScreen+ newborn screening v0.527 CTSD Zornitza Stark Gene: ctsd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.526 CTSD Zornitza Stark reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.526 CTNS Zornitza Stark Marked gene: CTNS as ready
BabyScreen+ newborn screening v0.526 CTNS Zornitza Stark Gene: ctns has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.526 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800
Lysosomal Storage Disorder v1.7 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
Mendeliome v1.396 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
BabyScreen+ newborn screening v0.525 CTNS Zornitza Stark Tag treatable tag was added to gene: CTNS.
BabyScreen+ newborn screening v0.525 CTNS Zornitza Stark reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinosis, nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.6 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Intellectual disability syndromic and non-syndromic v0.4987 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Mendeliome v1.396 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
BabyScreen+ newborn screening v0.525 CPS1 Zornitza Stark Marked gene: CPS1 as ready
BabyScreen+ newborn screening v0.525 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.525 CPS1 Zornitza Stark Publications for gene: CPS1 were set to
BabyScreen+ newborn screening v0.524 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
BabyScreen+ newborn screening v0.524 CPS1 Zornitza Stark reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28281899; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.524 COQ9 Zornitza Stark Tag for review tag was added to gene: COQ9.
BabyScreen+ newborn screening v0.524 COQ9 Zornitza Stark edited their review of gene: COQ9: Added comment: Listed as treatable on rx-genes based on expert opinion. For review.; Changed rating: AMBER
BabyScreen+ newborn screening v0.524 COQ9 Zornitza Stark Marked gene: COQ9 as ready
BabyScreen+ newborn screening v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.524 COQ9 Zornitza Stark Classified gene: COQ9 as Red List (low evidence)
BabyScreen+ newborn screening v0.524 COQ9 Zornitza Stark Gene: coq9 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.523 COQ9 Zornitza Stark reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 DPAGT1 John Christodoulou reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 DOLK John Christodoulou reviewed gene: DOLK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 DLD John Christodoulou reviewed gene: DLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuroregresson, lactic acidosis, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.396 TOMM7 Bryony Thompson Marked gene: TOMM7 as ready
Mendeliome v1.396 TOMM7 Bryony Thompson Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.396 TOMM7 Bryony Thompson Classified gene: TOMM7 as Amber List (moderate evidence)
Mendeliome v1.396 TOMM7 Bryony Thompson Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.395 TOMM7 Bryony Thompson gene: TOMM7 was added
gene: TOMM7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Phenotypes for gene: TOMM7 were set to growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911
Review for gene: TOMM7 was set to AMBER
Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Mendeliome v1.394 HECW2 Bryony Thompson Mode of inheritance for gene: HECW2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.393 HECW2 Bryony Thompson reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35753050, 35487419; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language MONDO:0014995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.393 SEPT4 Bryony Thompson Marked gene: SEPT4 as ready
Mendeliome v1.393 SEPT4 Bryony Thompson Gene: sept4 has been classified as Green List (High Evidence).
Mendeliome v1.393 SEPT4 Bryony Thompson Classified gene: SEPT4 as Green List (high evidence)
Mendeliome v1.393 SEPT4 Bryony Thompson Gene: sept4 has been classified as Green List (High Evidence).
Mendeliome v1.392 SEPT4 Bryony Thompson gene: SEPT4 was added
gene: SEPT4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEPT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPT4 were set to 36135717; 15737931; 15737930
Phenotypes for gene: SEPT4 were set to male infertility MONDO:0005372
Review for gene: SEPT4 was set to GREEN
Added comment: Two unrelated cases with primary male infertility (asthenoteratozoospermia) from consanguineous Chinsese families with 2 difference homozygous stopgain variants (Patient 1: c.721A>T, p.R241* and Patient 2: c.205C>T, p.R69*). Multiple supporting mouse models where the male mice are sterile.
Sources: Literature
Mendeliome v1.391 FAM20B Bryony Thompson Marked gene: FAM20B as ready
Mendeliome v1.391 FAM20B Bryony Thompson Gene: fam20b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.391 FAM20B Bryony Thompson Classified gene: FAM20B as Amber List (moderate evidence)
Mendeliome v1.391 FAM20B Bryony Thompson Gene: fam20b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.390 FAM20B Bryony Thompson gene: FAM20B was added
gene: FAM20B was added to Mendeliome. Sources: Other
Mode of inheritance for gene: FAM20B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20B were set to 30847897; 30105814; 22732358; 27405802
Phenotypes for gene: FAM20B were set to Desbuquois dysplasia MONDO:0015426
Review for gene: FAM20B was set to AMBER
Added comment: Two siblings from a single family with neonatal short limb dysplasia resembling Desbuquois dysplasia. One of the siblings underwent genetic testing and compound heterozygous variants were identified in FAM20B ((NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). Multiple mouse models reported with skeletal abnormalities.
Sources: Other
BabyScreen+ newborn screening v0.523 DHCR7 John Christodoulou reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 DGUOK John Christodoulou reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: liver failure, ophthalmoplegia, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Metaphyseal dysplasias v0.4 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Skeletal dysplasia v0.218 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.217 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Metaphyseal dysplasias v0.3 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Metaphyseal dysplasias. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Multiple joint dislocations and laxity v0.6 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Multiple joint dislocations and laxity v0.6 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Multiple joint dislocations and laxity v0.6 EXOC6B Bryony Thompson Publications for gene: EXOC6B were set to 26669664; 30284759
Multiple joint dislocations and laxity v0.5 EXOC6B Bryony Thompson reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26669664, 30284759, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.389 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Mendeliome v1.389 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Mendeliome v1.389 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Mendeliome v1.389 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Mendeliome v1.388 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
BabyScreen+ newborn screening v0.523 DDC John Christodoulou reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hypotonia, oculogyric crises, temperature instability, ID, autonomic dysfunction, sleep disturbance, choreoathetosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 DGAT1 John Christodoulou reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31778854; Phenotypes: intractable diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 D2HGDH John Christodoulou reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: developmental delay, dysmorphism, epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP27B1 John Christodoulou reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP27A1 John Christodoulou reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: diarrhoea, cataracts, xanthomas, progressive ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP17A1 John Christodoulou reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP11B2 John Christodoulou reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary hyperaldosteronism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP11B1 John Christodoulou reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27928728; Phenotypes: congenital adrenal hyperplasia, aldosteronism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CYP11A1 John Christodoulou reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25096886; Phenotypes: congenital adrenal hyperplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CUBN John Christodoulou commented on gene: CUBN: defect of intestinal vitamin B12 absorption; treatable with pharmacological doses of parenteral vitamin B12
BabyScreen+ newborn screening v0.523 CUBN John Christodoulou reviewed gene: CUBN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: megaloblastic anaemia, sensorimotor neuropathy, failure to thrive, cognitive impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CTSD John Christodoulou reviewed gene: CTSD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: neuronal ceroid lipofuscinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CTNS John Christodoulou reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi tubulopathy, photophobia, chronic renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 CPS1 John Christodoulou reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: neonatal hyperammonaemia and subsequent recurrent episodes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.523 COQ9 John Christodoulou reviewed gene: COQ9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Marked gene: DPH5 as ready
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.7 VPS33A Bryony Thompson Classified gene: VPS33A as Green List (high evidence)
Lysosomal Storage Disorder v1.7 VPS33A Bryony Thompson Gene: vps33a has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS33A Bryony Thompson reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.387 VPS33A Bryony Thompson Publications for gene: VPS33A were set to 28013294; 27547915
Mendeliome v1.386 VPS33A Bryony Thompson Classified gene: VPS33A as Green List (high evidence)
Mendeliome v1.386 VPS33A Bryony Thompson Gene: vps33a has been classified as Green List (High Evidence).
Mendeliome v1.385 VPS33A Bryony Thompson changed review comment from: PMID: 28013294 - 13 cases homozygous for VPS33A c.1492C>T p.(Arg498Trp) from non-consanguineous Yakuti families with a Mucopolysaccharidoses-like disease (coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans). Lysosomal over-acidification and heparan sulphate accumulation were detected in patient-derived and VPS33A-depleted HeLa cells.
PMID: 27547915 - 2 affected siblings homozygous for VPS33A p.(Arg498Trp) from a consanguineous Turkish family
PMID: 31936524 - 1 homozygous case from a non-consanguineous Yakuti family
PMID: 36153662 - an attenuated juvenile case with a new homozygous missense variant VPS33A c.599G>C p.(Arg200Pro). Urinary glycosaminoglycan analysis revealed increased heparan, dermatan sulphates, and hyaluronic acid and decreased abundance of VPS33A in patient-derived fibroblasts; to: Now two missense variants reported with disease in at least 15 probands/families
PMID: 28013294 - 13 cases homozygous for VPS33A c.1492C>T p.(Arg498Trp) from non-consanguineous Yakuti families with a Mucopolysaccharidoses-like disease (coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, intellectual disability, and excess secretion of urinary glycosaminoglycans). Lysosomal over-acidification and heparan sulphate accumulation were detected in patient-derived and VPS33A-depleted HeLa cells.
PMID: 27547915 - 2 affected siblings homozygous for VPS33A p.(Arg498Trp) from a consanguineous Turkish family
PMID: 31936524 - 1 homozygous case from a non-consanguineous Yakuti family
PMID: 36153662 - an attenuated juvenile case with a new homozygous missense variant VPS33A c.599G>C p.(Arg200Pro). Urinary glycosaminoglycan analysis revealed increased heparan, dermatan sulphates, and hyaluronic acid and decreased abundance of VPS33A in patient-derived fibroblasts
Mendeliome v1.385 DPH5 Zornitza Stark Marked gene: DPH5 as ready
Mendeliome v1.385 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Mendeliome v1.385 DPH5 Zornitza Stark Classified gene: DPH5 as Green List (high evidence)
Mendeliome v1.385 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Mendeliome v1.384 DPH5 Zornitza Stark gene: DPH5 was added
gene: DPH5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH5 were set to 35482014
Phenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, MIM# 620070
Review for gene: DPH5 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark edited their review of gene: DPH5: Changed publications: 35482014
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Classified gene: DPH5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4987 DPH5 Zornitza Stark Gene: dph5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4986 DPH5 Zornitza Stark gene: DPH5 was added
gene: DPH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPH5 were set to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070
Review for gene: DPH5 was set to GREEN
Added comment: 5 individuals from 3 unrelated families reported with severe ID, feeding difficulties, dysmorphic features and congenital anomalies, though there was no consistent pattern to these.
Sources: Literature
Mendeliome v1.383 VPS33A Bryony Thompson reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28013294, 27547915, 31936524, 36153662; Phenotypes: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.136 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Hereditary Neuropathy - complex v0.135 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Mendeliome v1.383 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Intermediate CMT to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Mendeliome v1.382 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Andermann syndrome, Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Intellectual disability syndromic and non-syndromic v0.4985 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Intellectual disability syndromic and non-syndromic v0.4984 ADGRL1 Zornitza Stark Mode of inheritance for gene: ADGRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4983 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1695 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Genetic Epilepsy v0.1694 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.382 ADGRL1 Zornitza Stark Phenotypes for gene: ADGRL1 were changed from Neurodevelopmental disorder, ADGRL1-related (MONDO#0700092) to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065
Mendeliome v1.381 ADGRL1 Zornitza Stark reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.523 SCN3A Zornitza Stark Tag for review tag was added to gene: SCN3A.
Tag treatable tag was added to gene: SCN3A.
BabyScreen+ newborn screening v0.523 SCN2A Zornitza Stark Tag for review tag was added to gene: SCN2A.
Tag treatable tag was added to gene: SCN2A.
BabyScreen+ newborn screening v0.523 SCN1A Zornitza Stark Tag for review tag was added to gene: SCN1A.
BabyScreen+ newborn screening v0.523 SCN1A Zornitza Stark Tag treatable tag was added to gene: SCN1A.
BabyScreen+ newborn screening v0.523 VPS33B Zornitza Stark Marked gene: VPS33B as ready
BabyScreen+ newborn screening v0.523 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.523 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from Arthrogryposis renal dysfunction cholestasis syndrome to Arthrogryposis, renal dysfunction, and cholestasis MIM#208085
BabyScreen+ newborn screening v0.522 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
BabyScreen+ newborn screening v0.521 VPS33B Zornitza Stark Classified gene: VPS33B as Red List (low evidence)
BabyScreen+ newborn screening v0.521 VPS33B Zornitza Stark Gene: vps33b has been classified as Red List (Low Evidence).
Phagocyte Defects v1.9 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Mendeliome v1.381 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Bone Marrow Failure v1.22 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
BabyScreen+ newborn screening v0.520 VPS45 Zornitza Stark Marked gene: VPS45 as ready
BabyScreen+ newborn screening v0.520 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.520 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
BabyScreen+ newborn screening v0.519 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
BabyScreen+ newborn screening v0.519 WAS Zornitza Stark Marked gene: WAS as ready
BabyScreen+ newborn screening v0.519 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.519 WAS Zornitza Stark Publications for gene: WAS were set to
BabyScreen+ newborn screening v0.518 WDR62 Zornitza Stark Marked gene: WDR62 as ready
BabyScreen+ newborn screening v0.518 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.518 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317
BabyScreen+ newborn screening v0.517 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
BabyScreen+ newborn screening v0.516 WDR62 Zornitza Stark Classified gene: WDR62 as Red List (low evidence)
BabyScreen+ newborn screening v0.516 WDR62 Zornitza Stark Gene: wdr62 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.515 WFS1 Zornitza Stark Marked gene: WFS1 as ready
BabyScreen+ newborn screening v0.515 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.515 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome to Wolfram syndrome MIM#222300
BabyScreen+ newborn screening v0.514 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
BabyScreen+ newborn screening v0.513 WFS1 Zornitza Stark Classified gene: WFS1 as Red List (low evidence)
BabyScreen+ newborn screening v0.513 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.512 WHRN Zornitza Stark Marked gene: WHRN as ready
BabyScreen+ newborn screening v0.512 WHRN Zornitza Stark Gene: whrn has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.512 WHRN Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.512 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
BabyScreen+ newborn screening v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.512 WRAP53 Zornitza Stark Classified gene: WRAP53 as Red List (low evidence)
BabyScreen+ newborn screening v0.512 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.511 WRN Zornitza Stark Marked gene: WRN as ready
BabyScreen+ newborn screening v0.511 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.511 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome to Werner syndrome MIM#277700
BabyScreen+ newborn screening v0.510 WRN Zornitza Stark Publications for gene: WRN were set to
BabyScreen+ newborn screening v0.509 WRN Zornitza Stark Classified gene: WRN as Red List (low evidence)
BabyScreen+ newborn screening v0.509 WRN Zornitza Stark Gene: wrn has been classified as Red List (Low Evidence).
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Marked gene: XIAP as ready
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.157 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
Mendeliome v1.381 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
BabyScreen+ newborn screening v0.508 XIAP Zornitza Stark Tag treatable tag was added to gene: XIAP.
BabyScreen+ newborn screening v0.508 XIAP Zornitza Stark Marked gene: XIAP as ready
BabyScreen+ newborn screening v0.508 XIAP Zornitza Stark Gene: xiap has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.508 XIAP Zornitza Stark Publications for gene: XIAP were set to
BabyScreen+ newborn screening v0.507 SCN3A Seb Lunke Marked gene: SCN3A as ready
BabyScreen+ newborn screening v0.507 SCN3A Seb Lunke Gene: scn3a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.507 SCN3A Seb Lunke Phenotypes for gene: SCN3A were changed from Developmental and epileptic encephalopathy 62, MIM# 617938 to Epileptic encephalopathy, early infantile, 62, MIM# 617938
BabyScreen+ newborn screening v0.506 SCN3A Seb Lunke Publications for gene: SCN3A were set to
BabyScreen+ newborn screening v0.505 SCN3A Seb Lunke reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34081427; Phenotypes: Epileptic encephalopathy, early infantile, 62, MIM# 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.505 SCN2A Seb Lunke Marked gene: SCN2A as ready
BabyScreen+ newborn screening v0.505 SCN2A Seb Lunke Gene: scn2a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.505 SCN2A Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

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

Childhood onset, severe neurological disorder.

Treatment: Phenytoin; high dose carbamazepine

Non-genetic confirmatory test: not available
BabyScreen+ newborn screening v0.505 SCN2A Seb Lunke reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.505 SCN1A Seb Lunke Marked gene: SCN1A as ready
BabyScreen+ newborn screening v0.505 SCN1A Seb Lunke Gene: scn1a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.505 SCN1A Seb Lunke Phenotypes for gene: SCN1A were changed from Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317
BabyScreen+ newborn screening v0.504 SCN1A Seb Lunke Publications for gene: SCN1A were set to
BabyScreen+ newborn screening v0.503 SCN1A Seb Lunke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301494; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.503 VPS33B Lilian Downie reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15052268, 15052268, 18853461; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 VPS45 Lilian Downie reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30294941, PMID: 32037586, PMID: 23738510; Phenotypes: Neutropenia, severe congenital, 5, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 WAS Lilian Downie reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301357; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.503 WDR62 Lilian Downie reviewed gene: WDR62: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35188728; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 WFS1 Lilian Downie reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301750, PMID: 11317350, PMID: 20738327, PMID: 31337416; Phenotypes: Wolfram syndrome MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 WHRN Lilian Downie commented on gene: WHRN: Definitive gene disease association Usher, moderate evidence it can also cause a non syndromic hearing loss phenotype.
Congenital hearing impairment, childhood onset visual loss
Treatment supportive, clinical trials for retinitis pigmentosa

*I think we should keep hearing loss genes on as it's part of traditional newborn screening*
BabyScreen+ newborn screening v0.503 WHRN Lilian Downie reviewed gene: WHRN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:26338283, PMID:22147658, PMID:17171570, PMID:21738389; Phenotypes: Usher syndrome, type 2D MIM# 611383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 WRAP53 Lilian Downie reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:21205863, 19250907, 20301779; Phenotypes: dyskeratosis congenita MIM#613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 WRN Lilian Downie reviewed gene: WRN: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301687; Phenotypes: Werner syndrome MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.503 XIAP Lilian Downie reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:22228567, 20489057, 17080092, 24942515, 25943627; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v1.17 Zornitza Stark List of related panels changed from to Nystagmus HP:0000639
Congenital Myasthenia v1.10 Zornitza Stark List of related panels changed from to Fatiguable weakness HP:0003473;Hypotonia HP:0001252
Oligodontia v0.28 Zornitza Stark List of related panels changed from to Abnormal number of teeth HP:0006483
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Oligodontia v0.27 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Oligodontia v0.27 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Oligodontia v0.27 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300
Oligodontia v0.26 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Oligodontia v0.25 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Oligodontia v0.25 EDARADD Zornitza Stark Marked gene: EDARADD as ready
Oligodontia v0.25 EDARADD Zornitza Stark Gene: edaradd has been classified as Green List (High Evidence).
Oligodontia v0.25 EDARADD Zornitza Stark Phenotypes for gene: EDARADD were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Oligodontia v0.24 EDARADD Zornitza Stark Publications for gene: EDARADD were set to
Oligodontia v0.23 EDARADD Zornitza Stark Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Oligodontia v0.22 EDAR Zornitza Stark Marked gene: EDAR as ready
Oligodontia v0.22 EDAR Zornitza Stark Gene: edar has been classified as Green List (High Evidence).
Oligodontia v0.22 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Oligodontia v0.21 EDAR Zornitza Stark Publications for gene: EDAR were set to
Oligodontia v0.20 EDAR Zornitza Stark Mode of inheritance for gene: EDAR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Oligodontia v0.19 EDA Zornitza Stark Marked gene: EDA as ready
Oligodontia v0.19 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Oligodontia v0.19 EDA Zornitza Stark Phenotypes for gene: EDA were changed from to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Oligodontia v0.18 EDA Zornitza Stark Publications for gene: EDA were set to
Oligodontia v0.17 EDA Zornitza Stark Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital hypothyroidism v0.35 Zornitza Stark List of related panels changed from to Hypothyroidism HP:0000821
Congenital Heart Defect v0.267 Zornitza Stark List of related panels changed from to Abnormal heart morphology HP:0001627
Congenital Diarrhoea v1.11 Zornitza Stark List of related panels changed from to Diarrhea HP:0002014
Congenital diaphragmatic hernia v1.11 Zornitza Stark List of related panels changed from to Congenital diaphragmatic hernia HP:0000776
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.116 Zornitza Stark List of related panels changed from to Abnormality of the urinary system HP:0000079
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.110 Zornitza Stark List of related panels changed from to Abnormality of the urinary system HP:0000079
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v1.49 Zornitza Stark List of related panels changed from to Abnormality of the urinary system HP:0000079
Cobblestone Malformations v1.1 Zornitza Stark List of related panels changed from to Abnormal cortical gyration HP:0002536
Clefting disorders v0.185 Zornitza Stark List of related panels changed from to Oral cleft HP:0000202
Ciliary Dyskinesia v1.24 Zornitza Stark List of related panels changed from Ciliary dyskinesia HP:0012265 to Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205
Ciliary Dyskinesia v1.23 Zornitza Stark List of related panels changed from to Ciliary dyskinesia HP:0012265
Chromosome Breakage Disorders v1.11 Zornitza Stark List of related panels changed from to Chromosome breakage HP:0040012
Cholestasis v0.237 Zornitza Stark List of related panels changed from to Cholestasis HP:0001396
Choanal atresia v1.3 Zornitza Stark List of related panels changed from to Choanal atresia HP:0000453
Cerebral vascular malformations v0.32 Zornitza Stark List of related panels changed from to Abnormal cerebral vascular morphology HP:0100659
Cerebral Palsy v1.36 Zornitza Stark List of related panels changed from to Cerebral palsy HP:0100021
Cerebellar and Pontocerebellar Hypoplasia v1.57 Zornitza Stark List of related panels changed from to Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879
Central Hypoventilation v1.5 Zornitza Stark List of related panels changed from to Central hypoventilation HP:0007110
Catecholaminergic Polymorphic Ventricular Tachycardia v0.33 Zornitza Stark List of related panels changed from to Polymorphic ventricular tachycardia HP:0031677
BabyScreen+ newborn screening v0.503 GAA Zornitza Stark Marked gene: GAA as ready
BabyScreen+ newborn screening v0.503 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.503 GAA Zornitza Stark Phenotypes for gene: GAA were changed from Glycogen storage disease II, MIM#232300 to Glycogen storage disease II, Pompe disease, MIM# 232300
BabyScreen+ newborn screening v0.502 GAA Zornitza Stark Tag treatable tag was added to gene: GAA.
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.502 SBDS Zornitza Stark Tag treatable tag was added to gene: SBDS.
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Marked gene: ACAN as ready
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.502 SAMHD1 Zornitza Stark Tag treatable tag was added to gene: SAMHD1.
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.502 GAA Alison Yeung changed review comment from: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills; to: Well establishes gene-disease association

Onset: Classic infantile form causes cardiomyopathy and severe hypotonia in infancy (<1 year); Late-onset form causes severe weakness and respiratory insufficiency with onset after 12 months; Adult form presents with progressive myopathy

Severity: Infantile form fatal in first year of life if untreated

Treatment: Enzyme replacement therapy with alglucosidase alfa prior to 6 months of age prolongs survival, reduces cardiac size and allows acquisition of motor skills

Non-molecular confirmatory test: enzyme activity analysis
BabyScreen+ newborn screening v0.502 G6PD Zornitza Stark Marked gene: G6PD as ready
BabyScreen+ newborn screening v0.502 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.502 GAA Alison Yeung reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II, Pompe disease, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal Dysplasia_Fetal v0.137 ADAMTSL2 Krithika Murali gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 20301776; 21415077
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1-MIM#231050
Review for gene: ADAMTSL2 was set to GREEN
Added comment: Disproportionate growth restriction affecting length has been detected in the antenatal period

--
Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Sources: Literature
BabyScreen+ newborn screening v0.502 SCN11A Seb Lunke Marked gene: SCN11A as ready
BabyScreen+ newborn screening v0.502 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.502 SCN11A Seb Lunke Phenotypes for gene: SCN11A were changed from Episodic pain syndrome to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548
BabyScreen+ newborn screening v0.501 SCN11A Seb Lunke Classified gene: SCN11A as Red List (low evidence)
BabyScreen+ newborn screening v0.501 SCN11A Seb Lunke Gene: scn11a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.500 SCN11A Seb Lunke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.500 SBDS Seb Lunke Marked gene: SBDS as ready
BabyScreen+ newborn screening v0.500 SBDS Seb Lunke Gene: sbds has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.500 SBDS Seb Lunke Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400
BabyScreen+ newborn screening v0.499 SBDS Seb Lunke Publications for gene: SBDS were set to
BabyScreen+ newborn screening v0.498 SBDS Seb Lunke reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22191555, 20301722; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.137 ACAN Krithika Murali gene: ACAN was added
gene: ACAN was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113; 27870580; 19110214; 30124491; 28331218; 20137779
Phenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800
Review for gene: ACAN was set to GREEN
Added comment: Spondyloepimetaphyseal dysplasia, aggrecan type is biallelic and associated with more severe skeletal phenotype likely to be detectable in fetal period.

Patients with SSOAD (monoallelic) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Patients born with low-normal birth length. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations.
Sources: Literature
BabyScreen+ newborn screening v0.498 BLNK Zornitza Stark Marked gene: BLNK as ready
BabyScreen+ newborn screening v0.498 BLNK Zornitza Stark Gene: blnk has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.498 BLNK Zornitza Stark Publications for gene: BLNK were set to
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark Marked gene: C5 as ready
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark Gene: c5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark Tag treatable tag was added to gene: C5.
BabyScreen+ newborn screening v0.497 C5 Zornitza Stark reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.497 SAMHD1 Seb Lunke Marked gene: SAMHD1 as ready
BabyScreen+ newborn screening v0.497 SAMHD1 Seb Lunke Gene: samhd1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.497 SAMHD1 Seb Lunke Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome to Aicardi-Goutieres syndrome 5, MIM# 612952
BabyScreen+ newborn screening v0.496 SAMHD1 Seb Lunke Publications for gene: SAMHD1 were set to
BabyScreen+ newborn screening v0.495 SAMHD1 Seb Lunke reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.137 ACP5 Krithika Murali gene: ACP5 was added
gene: ACP5 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 26854080; 26951490; 21217755; 26789720; 2363422; 21217752
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Review for gene: ACP5 was set to GREEN
Added comment: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.

Multiple reports in literature. Well established disease gene.

Skeletal findings likely to be seen in fetal period
Sources: Literature, Expert list
BabyScreen+ newborn screening v0.495 BSND Zornitza Stark Marked gene: BSND as ready
BabyScreen+ newborn screening v0.495 BSND Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.495 BSND Zornitza Stark Phenotypes for gene: BSND were changed from Bartter syndrome with sensorineural deafness to Bartter syndrome, type 4a, MIM# 602522
BabyScreen+ newborn screening v0.494 BSND Zornitza Stark Tag treatable tag was added to gene: BSND.
BabyScreen+ newborn screening v0.494 BSND Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.494 SALL1 Seb Lunke Marked gene: SALL1 as ready
BabyScreen+ newborn screening v0.494 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.494 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
BabyScreen+ newborn screening v0.494 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.494 SALL1 Seb Lunke Phenotypes for gene: SALL1 were changed from Townes-Brocks syndrome to Townes-Brocks syndrome 1, MIM#107480
BabyScreen+ newborn screening v0.493 BSCL2 Zornitza Stark Tag for review tag was added to gene: BSCL2.
Tag treatable tag was added to gene: BSCL2.
BabyScreen+ newborn screening v0.493 BSCL2 Zornitza Stark edited their review of gene: BSCL2: Changed rating: GREEN
BabyScreen+ newborn screening v0.493 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.493 SALL1 Seb Lunke Classified gene: SALL1 as Red List (low evidence)
BabyScreen+ newborn screening v0.493 SALL1 Seb Lunke Gene: sall1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.492 SALL1 Seb Lunke reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.492 SACS Seb Lunke Marked gene: SACS as ready
BabyScreen+ newborn screening v0.492 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.492 SACS Seb Lunke Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
BabyScreen+ newborn screening v0.491 SACS Seb Lunke Classified gene: SACS as Red List (low evidence)
BabyScreen+ newborn screening v0.491 SACS Seb Lunke Gene: sacs has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.490 SACS Seb Lunke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type MIM#270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
BabyScreen+ newborn screening v0.490 G6PD Alison Yeung reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4983 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Intellectual disability syndromic and non-syndromic v0.4983 BRIP1 Zornitza Stark Gene: brip1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4983 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Intellectual disability syndromic and non-syndromic v0.4982 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4981 BRIP1 Zornitza Stark Classified gene: BRIP1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4981 BRIP1 Zornitza Stark Gene: brip1 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v1.4 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Microcephaly v1.161 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Mendeliome v1.381 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Chromosome Breakage Disorders v1.10 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Bone Marrow Failure v1.22 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
BabyScreen+ newborn screening v0.490 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
BabyScreen+ newborn screening v0.490 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.490 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
BabyScreen+ newborn screening v0.490 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.490 G6PC3 Alison Yeung reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
BabyScreen+ newborn screening v0.490 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
BabyScreen+ newborn screening v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.490 BMPR1A Zornitza Stark Classified gene: BMPR1A as Red List (low evidence)
BabyScreen+ newborn screening v0.490 BMPR1A Zornitza Stark Gene: bmpr1a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.489 BMPR1A Zornitza Stark Tag for review tag was added to gene: BMPR1A.
BabyScreen+ newborn screening v0.489 BMPR1A Zornitza Stark reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.489 BLM Zornitza Stark Marked gene: BLM as ready
BabyScreen+ newborn screening v0.489 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.489 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, MIM# 210900
BabyScreen+ newborn screening v0.488 BLM Zornitza Stark Classified gene: BLM as Red List (low evidence)
BabyScreen+ newborn screening v0.488 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.487 BLM Zornitza Stark reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.487 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
BabyScreen+ newborn screening v0.487 ADGRV1 Zornitza Stark Gene: adgrv1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.487 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C to Usher syndrome, type 2C, MIM# 605472
BabyScreen+ newborn screening v0.486 ADGRV1 Zornitza Stark reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.486 ACADVL Zornitza Stark Marked gene: ACADVL as ready
BabyScreen+ newborn screening v0.486 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.486 ACADVL Zornitza Stark Publications for gene: ACADVL were set to
Stroke v1.7 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Cardiomyopathy_Paediatric v0.134 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Rhabdomyolysis and Metabolic Myopathy v0.90 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Intellectual disability syndromic and non-syndromic v0.4980 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Mitochondrial disease v0.839 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Mendeliome v1.381 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Fatty Acid Oxidation Defects v1.8 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
BabyScreen+ newborn screening v0.485 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
BabyScreen+ newborn screening v0.485 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.485 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
BabyScreen+ newborn screening v0.485 G6PC Alison Yeung reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.485 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.24 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.381 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.381 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.485 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
BabyScreen+ newborn screening v0.485 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.485 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome; Deafness, autosomal dominant to Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
BabyScreen+ newborn screening v0.484 ACTG1 Zornitza Stark Classified gene: ACTG1 as Red List (low evidence)
BabyScreen+ newborn screening v0.484 ACTG1 Zornitza Stark Gene: actg1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.483 ACTG1 Zornitza Stark reviewed gene: ACTG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.483 ACAD8 Zornitza Stark Marked gene: ACAD8 as ready
BabyScreen+ newborn screening v0.483 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.483 ACAD8 Zornitza Stark Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
BabyScreen+ newborn screening v0.482 ACAD8 Zornitza Stark Classified gene: ACAD8 as Red List (low evidence)
BabyScreen+ newborn screening v0.482 ACAD8 Zornitza Stark Gene: acad8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.481 ACAD8 Zornitza Stark reviewed gene: ACAD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.380 ACAD8 Zornitza Stark Phenotypes for gene: ACAD8 were changed from to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Polycystic liver disease v1.5 ALG5 Zornitza Stark Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Polycystic liver disease v1.4 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.53 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.53 ALG5 Zornitza Stark Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Mendeliome v1.379 ALG5 Zornitza Stark Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related to Polycystic kidney disease 7, MIM# 620056
Mendeliome v1.378 ALG5 Zornitza Stark reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1694 GABBR1 Zornitza Stark Classified gene: GABBR1 as Red List (low evidence)
Genetic Epilepsy v0.1694 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1693 GABBR1 Karina Sandoval edited their review of gene: GABBR1: Added comment: GABBR1 should be Red for Genetic Epilepsy panel as only 1 patient out of the 4 presented with seizures.

In addition PMID:36103875 stated it was surprising another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.; Changed rating: RED
Genetic Epilepsy v0.1693 GABBR1 Karina Sandoval changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. ; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

Functional analyses reveal that all four variants produce dysfunctional receptors, supporting that these de novo variants are pathogenic.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.
Genetic Epilepsy v0.1693 GABBR1 Karina Sandoval changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.
Common phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.

4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.
Ciliopathies v1.36 SCNM1 Zornitza Stark Marked gene: SCNM1 as ready
Ciliopathies v1.36 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4980 GABRG1 Zornitza Stark Phenotypes for gene: GABRG1 were changed from to Developmental and epileptic encephalopathy MONDO:0100062
Intellectual disability syndromic and non-syndromic v0.4979 GABRG1 Zornitza Stark Publications for gene: GABRG1 were set to
Intellectual disability syndromic and non-syndromic v0.4978 GABRG1 Zornitza Stark Mode of inheritance for gene: GABRG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.481 OSMR Zornitza Stark Marked gene: OSMR as ready
BabyScreen+ newborn screening v0.481 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.481 OSMR Zornitza Stark Phenotypes for gene: OSMR were changed from Amyloidosis, primary cutaneous to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
BabyScreen+ newborn screening v0.480 OSMR Zornitza Stark Classified gene: OSMR as Red List (low evidence)
BabyScreen+ newborn screening v0.480 OSMR Zornitza Stark Gene: osmr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.479 OSMR Zornitza Stark reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.378 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus to Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related
Mendeliome v1.377 SLC32A1 Zornitza Stark Publications for gene: SLC32A1 were set to 34038384
Genetic Epilepsy v0.1693 SLC32A1 Zornitza Stark Publications for gene: SLC32A1 were set to 34038384; 36073542
Genetic Epilepsy v0.1692 SLC32A1 Zornitza Stark Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus to Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related
Genetic Epilepsy v0.1691 SLC32A1 Zornitza Stark Publications for gene: SLC32A1 were set to 34038384
BabyScreen+ newborn screening v0.479 ORC1 Zornitza Stark Marked gene: ORC1 as ready
BabyScreen+ newborn screening v0.479 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.479 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome to Meier-Gorlin syndrome 1, MIM# 224690
BabyScreen+ newborn screening v0.478 ORC1 Zornitza Stark Classified gene: ORC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.478 ORC1 Zornitza Stark Gene: orc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.477 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.477 OPA1 Zornitza Stark Marked gene: OPA1 as ready
BabyScreen+ newborn screening v0.477 OPA1 Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.477 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy 1 to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
BabyScreen+ newborn screening v0.476 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 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
BabyScreen+ newborn screening v0.475 OPA1 Zornitza Stark Classified gene: OPA1 as Red List (low evidence)
BabyScreen+ newborn screening v0.475 OPA1 Zornitza Stark Gene: opa1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.474 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896, Behr syndrome MIM#210000, AR, Optic atrophy 1, MIM#165500, Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.474 OFD1 Zornitza Stark Marked gene: OFD1 as ready
BabyScreen+ newborn screening v0.474 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.474 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Oral-facial-digital syndrome to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200
BabyScreen+ newborn screening v0.473 OFD1 Zornitza Stark Classified gene: OFD1 as Red List (low evidence)
BabyScreen+ newborn screening v0.473 OFD1 Zornitza Stark Gene: ofd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.472 OFD1 Zornitza Stark reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.472 OCRL Zornitza Stark Marked gene: OCRL as ready
BabyScreen+ newborn screening v0.472 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.472 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from Lowe oculocerebrorenal syndrome to Dent disease 2, MIM# 300555; Lowe syndrome , MIM#309000
BabyScreen+ newborn screening v0.471 OCRL Zornitza Stark Classified gene: OCRL as Red List (low evidence)
BabyScreen+ newborn screening v0.471 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.470 OCRL Zornitza Stark reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dent disease 2, MIM# 300555, Lowe syndrome , MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.470 OCA2 Zornitza Stark Marked gene: OCA2 as ready
BabyScreen+ newborn screening v0.470 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.470 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
BabyScreen+ newborn screening v0.469 OCA2 Zornitza Stark Mode of inheritance for gene: OCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.468 OCA2 Zornitza Stark Classified gene: OCA2 as Red List (low evidence)
BabyScreen+ newborn screening v0.468 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.467 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.467 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
BabyScreen+ newborn screening v0.467 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.467 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M syndrome to 3-M syndrome 2, MIM #612921
BabyScreen+ newborn screening v0.466 OBSL1 Zornitza Stark Classified gene: OBSL1 as Red List (low evidence)
BabyScreen+ newborn screening v0.466 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.465 OBSL1 Zornitza Stark reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.465 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
BabyScreen+ newborn screening v0.465 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.465 NTRK1 Zornitza Stark Classified gene: NTRK1 as Red List (low evidence)
BabyScreen+ newborn screening v0.465 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.464 NTRK1 Zornitza Stark reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.464 NSD1 Zornitza Stark Marked gene: NSD1 as ready
BabyScreen+ newborn screening v0.464 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.464 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from Sotos syndrome to Sotos syndrome 1, MIM# 117550
BabyScreen+ newborn screening v0.463 NSD1 Zornitza Stark Classified gene: NSD1 as Red List (low evidence)
BabyScreen+ newborn screening v0.463 NSD1 Zornitza Stark Gene: nsd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.462 NSD1 Zornitza Stark reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1, MIM# 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.462 NR5A1 Zornitza Stark Marked gene: NR5A1 as ready
BabyScreen+ newborn screening v0.462 NR5A1 Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.462 NR5A1 Zornitza Stark Phenotypes for gene: NR5A1 were changed from 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965 to Adrenocortical insufficiency, (MIM#612964)
BabyScreen+ newborn screening v0.461 NR5A1 Zornitza Stark Tag treatable tag was added to gene: NR5A1.
BabyScreen+ newborn screening v0.461 NR5A1 Zornitza Stark reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenocortical insufficiency, (MIM#612964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.461 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
BabyScreen+ newborn screening v0.461 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.461 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.461 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
BabyScreen+ newborn screening v0.461 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.461 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from Congenital adrenal hypoplasia to Adrenal hypoplasia, congenital (MIM# 300200)
BabyScreen+ newborn screening v0.460 NR0B1 Zornitza Stark Tag treatable tag was added to gene: NR0B1.
BabyScreen+ newborn screening v0.460 NR0B1 Zornitza Stark reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.460 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
BabyScreen+ newborn screening v0.460 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.460 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Congenital nephrotic syndrome, Finnish type to Nephrotic syndrome, type 1, MIM# 256300
BabyScreen+ newborn screening v0.459 NPHS1 Zornitza Stark Classified gene: NPHS1 as Red List (low evidence)
BabyScreen+ newborn screening v0.459 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.458 NPHS1 Zornitza Stark reviewed gene: NPHS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.458 NPHP4 Zornitza Stark Marked gene: NPHP4 as ready
BabyScreen+ newborn screening v0.458 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.458 NPHP4 Zornitza Stark Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996
BabyScreen+ newborn screening v0.457 NPHP4 Zornitza Stark Classified gene: NPHP4 as Red List (low evidence)
BabyScreen+ newborn screening v0.457 NPHP4 Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.456 NPHP4 Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.456 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
BabyScreen+ newborn screening v0.456 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.456 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
BabyScreen+ newborn screening v0.455 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.455 NPHP3 Zornitza Stark Classified gene: NPHP3 as Red List (low evidence)
BabyScreen+ newborn screening v0.455 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Mendeliome v1.376 SCNM1 Elena Savva Marked gene: SCNM1 as ready
Mendeliome v1.376 SCNM1 Elena Savva Gene: scnm1 has been classified as Green List (High Evidence).
Mendeliome v1.376 SCNM1 Elena Savva Classified gene: SCNM1 as Green List (high evidence)
Mendeliome v1.376 SCNM1 Elena Savva Gene: scnm1 has been classified as Green List (High Evidence).
Mendeliome v1.375 SCNM1 Elena Savva gene: SCNM1 was added
gene: SCNM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to PMID: 36084634
Phenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Ataxia - paediatric v0.345 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4977 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.149 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.839 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.839 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.838 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.838 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.837 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.837 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Genetic Epilepsy v0.1690 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mendeliome v1.374 DEPDC5 Dean Phelan reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.75 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Fetal anomalies v1.75 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Fetal anomalies v1.75 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Fetal anomalies v1.75 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Microcephaly v1.161 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Microcephaly v1.161 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Microcephaly v1.161 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Microcephaly v1.161 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Differences of Sex Development v0.268 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Central Hypoventilation v1.4 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4976 DEPDC5 Dean Phelan reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.357 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Arthrogryposis v0.357 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Ciliopathies v1.36 SCNM1 Zornitza Stark Classified gene: SCNM1 as Green List (high evidence)
Ciliopathies v1.36 SCNM1 Zornitza Stark Gene: scnm1 has been classified as Green List (High Evidence).
Arthrogryposis v0.357 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Arthrogryposis v0.357 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1689 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Genetic Epilepsy v0.1689 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Arthrogryposis v0.356 KCNK3 Zornitza Stark Classified gene: KCNK3 as Green List (high evidence)
Arthrogryposis v0.356 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence).
Mendeliome v1.374 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Mendeliome v1.374 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mendeliome v1.374 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Marked gene: DEPDC5 as ready
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Classified gene: DEPDC5 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.179 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Mendeliome v1.374 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mendeliome v1.374 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.216 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Skeletal dysplasia v0.216 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.178 DEPDC5 Dean Phelan gene: DEPDC5 was added
gene: DEPDC5 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: DEPDC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEPDC5 were set to PMID: 36067010; 32848577
Phenotypes for gene: DEPDC5 were set to Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Mode of pathogenicity for gene: DEPDC5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: DEPDC5 was set to GREEN
Added comment: PMID: 36067010 - Homozygous missense variants were identified in five families (3x Irish Traveller families with same variant; and 1x Tunisian and 1x Lebanese families with the same variant; ie. 2 different variants only) in 9 children with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. Disease mechanism is LOF as DEPDC5 is a repressor/inhibitor within the mTOR pathway.

PMID: 32848577 - A different homozygous missense variant was identified in a child with focal cortical dysplasia and childhood onset epilepsy.
Sources: Literature
Genetic Epilepsy v0.1688 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Genetic Epilepsy v0.1688 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Mendeliome v1.373 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Mendeliome v1.373 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.115 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.115 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1687 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v1.10 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mendeliome v1.372 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Marked gene: GABBR1 as ready
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Genetic Epilepsy v0.1687 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1686 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1 MIM#604364 to Epilepsy, familial focal, with variable foci 1 MIM#604364; Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092
Genetic Epilepsy v0.1685 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1684 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1684 GABBR1 Karina Sandoval reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36103875; Phenotypes: Neurodevelopmental disorder, GABBR1-related, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.344 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1684 GABBR1 Karina Sandoval gene: GABBR1 was added
gene: GABBR1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to PMID:36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092
Mendeliome v1.372 GABRG1 Seb Lunke Marked gene: GABRG1 as ready
Mendeliome v1.372 GABRG1 Seb Lunke Gene: gabrg1 has been classified as Red List (Low Evidence).
Mendeliome v1.372 GABBR1 Zornitza Stark Marked gene: GABBR1 as ready
Mendeliome v1.372 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Ciliopathies v1.35 SCNM1 Elena Savva gene: SCNM1 was added
gene: SCNM1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to PMID: 36084634
Phenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308
Review for gene: SCNM1 was set to GREEN
Added comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Mendeliome v1.372 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Mendeliome v1.372 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.148 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Mendeliome v1.371 GABBR1 Zornitza Stark gene: GABBR1 was added
gene: GABBR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092
Review for gene: GABBR1 was set to GREEN
Added comment: Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia.
Sources: Literature
Mendeliome v1.371 GABRG1 Seb Lunke Classified gene: GABRG1 as Red List (low evidence)
Mendeliome v1.371 GABRG1 Seb Lunke Gene: gabrg1 has been classified as Red List (Low Evidence).
Mendeliome v1.370 DUT Seb Lunke Marked gene: DUT as ready
Mendeliome v1.370 DUT Seb Lunke Gene: dut has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Marked gene: GABBR1 as ready
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Mendeliome v1.370 DUT Seb Lunke Classified gene: DUT as Green List (high evidence)
Mendeliome v1.370 DUT Seb Lunke Gene: dut has been classified as Green List (High Evidence).
Optic Atrophy v1.9 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Classified gene: GABBR1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4976 GABBR1 Zornitza Stark Gene: gabbr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4975 GABBR1 Zornitza Stark gene: GABBR1 was added
gene: GABBR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder, GABBR1-related, MONDO:0700092
Review for gene: GABBR1 was set to GREEN
Added comment: Four individuals with de novo variants in this gene and varying severity of DD/ID, seizures and hypotonia.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4974 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Genetic Epilepsy v0.1684 DEPDC5 Dean Phelan reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36067010, 32848577; Phenotypes: polymicrogyria, macrocephaly, epilepsy, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.836 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Mendeliome v1.369 DUT Daniel Flanagan gene: DUT was added
gene: DUT was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Review for gene: DUT was set to GREEN
Added comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.

p.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD.
Sources: Expert list
Mendeliome v1.369 DACT1 Paul De Fazio reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 DACT1 Paul De Fazio reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: None; Current diagnostic: yes
Genetic Epilepsy v0.1684 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Genetic Epilepsy v0.1684 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1683 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Genetic Epilepsy v0.1683 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Fetal anomalies v1.74 MED11 Ain Roesley Marked gene: MED11 as ready
Fetal anomalies v1.74 MED11 Ain Roesley Gene: med11 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1682 MED11 Ain Roesley Marked gene: MED11 as ready
Genetic Epilepsy v0.1682 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Mendeliome v1.369 CENPP Seb Lunke Marked gene: CENPP as ready
Mendeliome v1.369 CENPP Seb Lunke Gene: cenpp has been classified as Red List (Low Evidence).
Fetal anomalies v1.74 MED11 Ain Roesley Classified gene: MED11 as Amber List (moderate evidence)
Fetal anomalies v1.74 MED11 Ain Roesley Gene: med11 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.369 CENPP Seb Lunke changed review comment from: Sources: Literature; to: Single family with dominant SNHL segregated through 5 family members. Truncating variant in NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter). Note: misannotated as nonsense variant in paper.
Sources: Literature
Fetal anomalies v1.73 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to AMBER
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Mendeliome v1.369 CENPP Seb Lunke gene: CENPP was added
gene: CENPP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CENPP were set to 36071244
Phenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587
Review for gene: CENPP was set to RED
Added comment: Sources: Literature
Genetic Epilepsy v0.1682 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Bone Marrow Failure v1.22 DUT Alison Yeung Marked gene: DUT as ready
Bone Marrow Failure v1.22 DUT Alison Yeung Gene: dut has been classified as Green List (High Evidence).
Bone Marrow Failure v1.22 DUT Alison Yeung Classified gene: DUT as Green List (high evidence)
Bone Marrow Failure v1.22 DUT Alison Yeung Gene: dut has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.216 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.216 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4974 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Arthrogryposis v0.355 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Arthrogryposis v0.355 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Arthrogryposis v0.355 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Arthrogryposis v0.355 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Marked gene: TAB2 as ready
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Arthrogryposis v0.354 MED11 Ain Roesley Marked gene: MED11 as ready
Arthrogryposis v0.354 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.215 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.215 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley Marked gene: MED11 as ready
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley Gene: med11 has been classified as Red List (Low Evidence).
Mendeliome v1.368 SLC13A1 Zornitza Stark Marked gene: SLC13A1 as ready
Mendeliome v1.368 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Red List (Low Evidence).
Arthrogryposis v0.354 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Skeletal dysplasia v0.214 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal dysplasia v0.214 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Mendeliome v1.368 GABRG1 Anna Ritchie gene: GABRG1 was added
gene: GABRG1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG1 were set to PMID: 36121006
Phenotypes for gene: GABRG1 were set to Developmental and epileptic encephalopathy MONDO:0100062
Added comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene.
Sources: Literature
Mendeliome v1.368 SLC32A1 Lucy Spencer reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36073542; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.368 SLC13A1 Zornitza Stark Classified gene: SLC13A1 as Red List (low evidence)
Mendeliome v1.368 SLC13A1 Zornitza Stark Gene: slc13a1 has been classified as Red List (Low Evidence).
Callosome v0.483 ATP6V0C Alison Yeung Marked gene: ATP6V0C as ready
Callosome v0.483 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Skeletal dysplasia v0.213 TAB2 Seb Lunke Marked gene: TAB2 as ready
Skeletal dysplasia v0.213 TAB2 Seb Lunke Gene: tab2 has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.4973 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Callosome v0.483 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Callosome v0.483 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1681 SLC32A1 Lucy Spencer reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36073542; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.367 MED11 Ain Roesley Marked gene: MED11 as ready
Mendeliome v1.367 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Mendeliome v1.367 MED11 Ain Roesley Classified gene: MED11 as Green List (high evidence)
Mendeliome v1.367 MED11 Ain Roesley Gene: med11 has been classified as Green List (High Evidence).
Mendeliome v1.366 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.366 MED11 Ain Roesley gene: MED11 was added
gene: MED11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to neurodevelopmental disorder MONDO#0700092, MED11-related
Review for gene: MED11 was set to GREEN
gene: MED11 was marked as current diagnostic
Added comment: 7 affected from 5 families (3x consang) with the same recurrent variant of p.(Arg109*).

Protein truncating, NOT NMD as proven by RT-PCR and western blot. Zebrafish knockout model recapitulates key clinical phenotypes

NO evidence of founder effect from haplotype analysis

7/7 cerebral dysgyria, cortical atrophy
5/7 limb contracture
4/7 epilepsy
3/7 families with IUGR
3/7 GDD
3/7 hearing loss
3/7 undescended testis
2/7 nystagmus
1/7 congenital cataract
Sources: Literature
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Marked gene: GABRG1 as ready
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Gene: gabrg1 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.21 DUT Daniel Flanagan gene: DUT was added
gene: DUT was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Review for gene: DUT was set to AMBER
Added comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.

p.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD.
Sources: Expert list
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Classified gene: GABRG1 as Red List (low evidence)
Genetic Epilepsy v0.1681 GABRG1 Alison Yeung Gene: gabrg1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Marked gene: SLC32A1 as ready
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Gene: slc32a1 has been classified as Green List (High Evidence).
Callosome v0.482 ATP6V0C Naomi Baker gene: ATP6V0C was added
gene: ATP6V0C was added to Callosome. Sources: Literature
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0C were set to PMID:36074901
Phenotypes for gene: ATP6V0C were set to neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Review for gene: ATP6V0C was set to GREEN
Added comment: 27 individuals reported with developmental delay, early-onset seizures, and ID. Of the 21 individuals with MRIs, five had agenesis/hypoplasia of the corpus callosum, five had cerebellar vermis, and four had delayed myelination. De novo variants identified in most individuals, including missense, frameshift and a stop-loss variant. Authors present some functional studies and postulate a dominant negative mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Classified gene: SLC32A1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4972 SLC32A1 Zornitza Stark Gene: slc32a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Marked gene: SARS as ready
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Added comment: Comment when marking as ready: potentially specific to the aminoacylation domain
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Gene: sars has been classified as Green List (High Evidence).
Mendeliome v1.365 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.136 TAB2 Belinda Chong gene: TAB2 was added
gene: TAB2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to 34456334; 36000780
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Classified gene: SARS as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.19 SARS Seb Lunke Gene: sars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1680 GABRG1 Anna Ritchie gene: GABRG1 was added
gene: GABRG1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG1 were set to PMID: 36121006
Phenotypes for gene: GABRG1 were set to developmental and epileptic encephalopathy MONDO:0100062
Review for gene: GABRG1 was set to RED
Added comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene.
Sources: Literature
Mendeliome v1.365 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Mendeliome v1.365 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Mendeliome v1.364 ATP6V0C Alison Yeung reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.213 TAB2 Belinda Chong gene: TAB2 was added
gene: TAB2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to 34456334; 36000780
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Mendeliome v1.364 SLC13A1 Lucy Spencer gene: SLC13A1 was added
gene: SLC13A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related
Review for gene: SLC13A1 was set to RED
Added comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.

Also this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4971 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4971 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1680 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Genetic Epilepsy v0.1680 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Mendeliome v1.364 LAMA5 Zornitza Stark Classified gene: LAMA5 as Green List (high evidence)
Mendeliome v1.364 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1679 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Genetic Epilepsy v0.1679 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Mendeliome v1.363 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35419533; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4970 GABRG1 Anna Ritchie reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36121006; Phenotypes: Developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.212 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from Nephrotic syndrome to Nephrotic syndrome, type 26 620049
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Marked gene: SLC13A1 as ready
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Gene: slc13a1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Classified gene: SLC13A1 as Red List (low evidence)
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Added comment: Comment on list classification: Lots of hets and 1 hom, authors claim "predisposing to degenerative bone and joint disease"
Skeletal dysplasia v0.213 SLC13A1 Seb Lunke Gene: slc13a1 has been classified as Red List (Low Evidence).
Proteinuria v0.211 LAMA5 Zornitza Stark Classified gene: LAMA5 as Green List (high evidence)
Proteinuria v0.211 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Proteinuria v0.210 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.363 NAPB Alison Yeung Marked gene: NAPB as ready
Mendeliome v1.363 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Microcephaly v1.160 NAPB Alison Yeung Marked gene: NAPB as ready
Microcephaly v1.160 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Mendeliome v1.363 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Mendeliome v1.363 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Microcephaly v1.160 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Microcephaly v1.160 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Mendeliome v1.362 FKBP6 Zornitza Stark Marked gene: FKBP6 as ready
Mendeliome v1.362 FKBP6 Zornitza Stark Gene: fkbp6 has been classified as Green List (High Evidence).
Mendeliome v1.362 FKBP6 Zornitza Stark Classified gene: FKBP6 as Green List (high evidence)
Mendeliome v1.362 FKBP6 Zornitza Stark Gene: fkbp6 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1678 NAPB Alison Yeung Marked gene: NAPB as ready
Genetic Epilepsy v0.1678 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1678 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Genetic Epilepsy v0.1678 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.454 OSMR David Amor reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Marked gene: NAPB as ready
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Mendeliome v1.361 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Mendeliome v1.361 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Classified gene: NAPB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4970 NAPB Alison Yeung Gene: napb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4969 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Gene: mtss1l has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Classified gene: MTSS1L as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.148 MTSS1L Elena Savva Gene: mtss1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.72 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Fetal anomalies v1.72 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Fetal anomalies v1.72 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Fetal anomalies v1.72 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Deafness_Isolated v1.37 CENPP Seb Lunke Marked gene: CENPP as ready
Deafness_Isolated v1.37 CENPP Seb Lunke Gene: cenpp has been classified as Red List (Low Evidence).
Deafness_Isolated v1.37 CENPP Seb Lunke gene: CENPP was added
gene: CENPP was added to Deafness_Isolated. Sources: Literature
Mode of inheritance for gene: CENPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CENPP were set to 36071244
Phenotypes for gene: CENPP were set to autosomal dominant nonsyndromic hearing loss; MONDO:0019587
Review for gene: CENPP was set to RED
Added comment: Single family with dominant SNHL segregated through 5 family members. Truncating variant in NM_001012267.3(CENPP):c.849T>A (p.Cys283Ter). Note: misannotated as nonsense variant in paper.
Sources: Literature
Growth failure v1.45 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Growth failure v1.45 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.147 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to AMBER
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with sensorineural hearing loss (2/4)
- Overexpression supports a DN mechanism
Sources: Literature
Mendeliome v1.361 SARS Ee Ming Wong edited their review of gene: SARS: Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families
-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation; Changed rating: GREEN; Changed publications: 36088542; Changed phenotypes: Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Growth failure v1.45 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Growth failure v1.45 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1677 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4969 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Mendeliome v1.361 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Mendeliome v1.361 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Mendeliome v1.361 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Mendeliome v1.361 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Congenital nystagmus v1.16 MTSS1L Elena Savva Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071)
Cataract v0.346 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Cataract v0.346 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Cataract v0.346 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Cataract v0.346 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Microcephaly v1.159 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Microcephaly v1.159 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Mendeliome v1.360 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Mendeliome v1.360 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Microcephaly v1.159 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Microcephaly v1.159 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Ectodermal Dysplasia v0.73 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Mendeliome v1.359 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4968 SLC32A1 Lucy Spencer gene: SLC32A1 was added
gene: SLC32A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC32A1 were set to 36073542
Phenotypes for gene: SLC32A1 were set to developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related
Review for gene: SLC32A1 was set to GREEN
Added comment: PMID: 36073542- 4 patients with de novo missense. All have moderate to severe ID or developmental delay and seizures. 3 have a movement disorder. Developmental delay appears to be a new association for this gene described in this paper.
Sources: Literature
Microcephaly v1.158 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with microcephaly or relative microcephaly (5/5)
- Overexpression supports a DN mechanism
Sources: Literature
Genetic Epilepsy v0.1677 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Genetic Epilepsy v0.1677 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1677 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Genetic Epilepsy v0.1677 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1676 GCSH Ain Roesley Marked gene: GCSH as ready
Genetic Epilepsy v0.1676 GCSH Ain Roesley Gene: gcsh has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.146 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.18 SARS Ee Ming Wong gene: SARS was added
gene: SARS was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SARS were set to 36088542
Phenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related
Review for gene: SARS was set to GREEN
gene: SARS was marked as current diagnostic
Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families
-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4968 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4968 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Congenital nystagmus v1.15 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Congenital nystagmus v1.15 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1676 GCSH Ain Roesley gene: GCSH was added
gene: GCSH was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 36190515
Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Penetrance for gene: GCSH were set to Complete
Review for gene: GCSH was set to GREEN
gene: GCSH was marked as current diagnostic
Added comment: 6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems

Severe fatal variants: 2x start loss and 1x missense
Attenuated variants : 2x missense and 1x exon 4-5 dup
Sources: Literature
Congenital nystagmus v1.14 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4967 MTSS1L Elena Savva Classified gene: MTSS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4967 MTSS1L Elena Savva Gene: mtss1l has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.145 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1L Elena Savva Marked gene: MTSS1L as ready
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1L Elena Savva Gene: mtss1l has been classified as Red List (Low Evidence).
Mendeliome v1.358 DAW1 Alison Yeung Marked gene: DAW1 as ready
Mendeliome v1.358 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Marked gene: DAW1 as ready
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.358 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Mendeliome v1.358 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Proteinuria v0.210 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, Alport syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.357 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4966 MTSS1 Elena Savva Deleted their review
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4966 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Microcephaly v1.157 MTSS1 Elena Savva Deleted their review
Microcephaly v1.157 MTSS1 Elena Savva Deleted their comment
Callosome v0.482 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321; 36190515
Intellectual disability syndromic and non-syndromic v0.4965 GCSH Ain Roesley reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Callosome v0.481 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Mendeliome v1.356 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Mendeliome v1.356 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Callosome v0.481 GCSH Ain Roesley Classified gene: GCSH as Amber List (moderate evidence)
Callosome v0.481 GCSH Ain Roesley Gene: gcsh has been classified as Amber List (Moderate Evidence).
Microcephaly v1.157 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD. Also noted to have progressive microcephaly (9th to <0.4th centile)

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.356 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Mendeliome v1.356 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Heterotaxy v1.25 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Heterotaxy v1.25 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.355 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Microcephaly v1.157 MTSS1 Elena Savva gene: MTSS1 was added
gene: MTSS1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1 were set to PMID: 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with microcephaly or relative microcephaly (5/5)
- Overexpression supports a DN mechanism
Sources: Literature
Callosome v0.480 GCSH Ain Roesley reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.354 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.354 FKBP6 Dean Phelan gene: FKBP6 was added
gene: FKBP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP6 were set to PMID: 36150389
Phenotypes for gene: FKBP6 were set to Spermatogenic failure (MONDO:0004983), FKBP6-related
Review for gene: FKBP6 was set to GREEN
Added comment: PMID: 36150389 - large cohort study of men with severe spermatogenic failure (SPGF), identified six individuals with rare bi-allelic loss of function variants in FKBP6. RT-qPCR and immunofluorescence confirmed lack of FKBP6 expression. In mice, Fkbp6 has also been shown to be essential for spermatogenesis.
Sources: Literature
Mendeliome v1.354 GCSH Ain Roesley Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM# 605899 to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related
Intellectual disability syndromic and non-syndromic v0.4965 MTSS1 Elena Savva gene: MTSS1 was added
gene: MTSS1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1 were set to PMID: 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Mendeliome v1.353 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Mendeliome v1.352 GCSH Ain Roesley edited their review of gene: GCSH: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Mendeliome v1.352 GCSH Ain Roesley edited their review of gene: GCSH: Changed phenotypes: Glycine encephalopathy MIM#605899, neurodevelopmental disorder MONDO#0700092, GCHS-related
Microcephaly v1.156 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1675 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Heterotaxy v1.24 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Microcephaly v1.156 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Marked gene: DAW1 as ready
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Mendeliome v1.352 GCSH Ain Roesley Classified gene: GCSH as Green List (high evidence)
Mendeliome v1.352 GCSH Ain Roesley Gene: gcsh has been classified as Green List (High Evidence).
Microcephaly v1.156 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Microcephaly v1.156 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.212 SLC13A1 Lucy Spencer gene: SLC13A1 was added
gene: SLC13A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to sulfation-related bone disorder MONDO:0019688, SLC13A1-related
Review for gene: SLC13A1 was set to RED
Added comment: PMID: 36175384- 1 patient with a homozygous nonsense variant in SLC13A1. Patient has enlargements of the joints, and spondylo-epi-metaphyseal radiological abnormalities in early childhood, which improved with age. Also autistic features and hyposulfatemia and hypersulfaturia, and reduced serum cholesterol sulfate. However the variant in this individual (Arg12Ter) has 569 hets and 1 hom in gnomad.

Also this patient was homozygous for CFTR Ala455Gly which is a known pathogenic variant associated with a less severe CF phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4964 MTSS1L Elena Savva gene: MTSS1L was added
gene: MTSS1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MTSS1L were set to PMID: 36067766
Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)
Review for gene: MTSS1L was set to GREEN
Added comment: Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.
- Overexpression supports a DN mechanism
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4963 NAPB Paul De Fazio gene: NAPB was added
gene: NAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 26235277; 28097321; 33189936
Phenotypes for gene: NAPB were set to Developmental and epileptic encephalopathy 107 MIM#620033
Review for gene: NAPB was set to GREEN
gene: NAPB was marked as current diagnostic
Added comment: PMID 26235277: homozygous nonsense variant identified in a 6 year old girl by trio WES with early-onset epileptic encephalopathy characterised by multifocal seizures and profound GDD

PMID 28097321: exome sequencing in 152 consanguineous families with at least one member affected with ID. Homozygous nonsense variant identified in a patient with profound ID, seizures, feeding difficulties in infancy, muscularhypotonia, microcephaly, and impaired vision

PMID 33189936: homozygous canonical splice variant identified by trio exome sequencing in two siblings with seizures, intellectual disability and global developmental delay, microcephaly (<-3SD), and muscular hypotonia.
Sources: Literature
Mendeliome v1.351 GCSH Ain Roesley reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: glycine encephalopathy MONDO#0011612, GCSH-related, neurodevelopmental disorder MONDO#0700092, GCHS-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Microcephaly v1.155 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Marked gene: RABGAP1 as ready
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Classified gene: RABGAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4963 RABGAP1 Zornitza Stark Gene: rabgap1 has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Classified gene: DAW1 as Green List (high evidence)
Ciliary Dyskinesia v1.22 DAW1 Alison Yeung Gene: daw1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4962 RABGAP1 Zornitza Stark gene: RABGAP1 was added
gene: RABGAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092
Review for gene: RABGAP1 was set to GREEN
Added comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype.
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung changed review comment from: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature; to: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterotaxy phenotype
Sources: Literature
Ciliary Dyskinesia v1.21 DAW1 Alison Yeung gene: DAW1 was added
gene: DAW1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to Primary ciliary dyskinesia, MONDO:0016575; Visceral heterotaxy, MONDO:0018677
Review for gene: DAW1 was set to GREEN
Added comment: Biallelic variants identified in two unrelated families. Zebrafish model recapitulates PCD and heterodoxy phenotype
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4961 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Intellectual disability syndromic and non-syndromic v0.4960 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Intellectual disability syndromic and non-syndromic v0.4959 NSD2 Zornitza Stark edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed publications: 30345613, 31171569, 36189577; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.351 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Mendeliome v1.350 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed publications: 36189577
Mendeliome v1.350 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability; Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.349 NSD2 Zornitza Stark Publications for gene: NSD2 were set to 30345613; 31171569
Mendeliome v1.348 NSD2 Zornitza Stark edited their review of gene: NSD2: Added comment: PMID 36189577: two individuals reported with a GoF variant, p.Glu1099Lys, and a distinct phenotype: intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly.; Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability, Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092
Mendeliome v1.348 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Growth failure v1.44 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
BabyScreen+ newborn screening v0.454 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
BabyScreen+ newborn screening v0.454 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
Cataract v0.345 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Fetal anomalies v1.71 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4959 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID (mild to severe)
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Ectodermal Dysplasia v0.72 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Ectodermal Dysplasia. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
BabyScreen+ newborn screening v0.454 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Nephronophthisis to Joubert syndrome 4, MIM# 609583; Nephronophthisis 1, juvenile, MIM# 256100; Senior-Loken syndrome-1, MIM# 266900
BabyScreen+ newborn screening v0.453 NPHP1 Zornitza Stark Classified gene: NPHP1 as Red List (low evidence)
BabyScreen+ newborn screening v0.453 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.452 NPHP1 Zornitza Stark reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.452 NPC2 Zornitza Stark Marked gene: NPC2 as ready
BabyScreen+ newborn screening v0.452 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.452 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
BabyScreen+ newborn screening v0.451 NPC2 Zornitza Stark reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann Pick C2, OMIM 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.451 NPC1 Zornitza Stark Marked gene: NPC1 as ready
BabyScreen+ newborn screening v0.451 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.451 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
BabyScreen+ newborn screening v0.450 NPC1 Zornitza Stark Tag for review tag was added to gene: NPC1.
BabyScreen+ newborn screening v0.450 NPC1 Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.450 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
BabyScreen+ newborn screening v0.450 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.450 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310
BabyScreen+ newborn screening v0.449 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
BabyScreen+ newborn screening v0.449 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.448 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.448 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
BabyScreen+ newborn screening v0.448 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.448 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Hajdu-Cheney syndrome to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
BabyScreen+ newborn screening v0.447 NOTCH2 Zornitza Stark Classified gene: NOTCH2 as Red List (low evidence)
BabyScreen+ newborn screening v0.447 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.446 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.446 ORC1 David Amor reviewed gene: ORC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.446 NOG Zornitza Stark Marked gene: NOG as ready
BabyScreen+ newborn screening v0.446 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.446 NOG Zornitza Stark Phenotypes for gene: NOG were changed from Symphalangism, proximal, 1A to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
BabyScreen+ newborn screening v0.445 NOG Zornitza Stark Classified gene: NOG as Red List (low evidence)
BabyScreen+ newborn screening v0.445 NOG Zornitza Stark Gene: nog has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.444 NOG Zornitza Stark edited their review of gene: NOG: Changed rating: RED
BabyScreen+ newborn screening v0.444 NOG Zornitza Stark reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.444 NNT Zornitza Stark Marked gene: NNT as ready
BabyScreen+ newborn screening v0.444 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.444 NNT Zornitza Stark Publications for gene: NNT were set to
BabyScreen+ newborn screening v0.443 NNT Zornitza Stark Tag treatable tag was added to gene: NNT.
BabyScreen+ newborn screening v0.443 NNT Zornitza Stark reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.443 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
BabyScreen+ newborn screening v0.443 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.443 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
BabyScreen+ newborn screening v0.442 OPA1 David Amor reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.442 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.442 NIPBL Zornitza Stark Marked gene: NIPBL as ready
BabyScreen+ newborn screening v0.442 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.442 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome 1, MIM# 122470
BabyScreen+ newborn screening v0.441 NIPBL Zornitza Stark Classified gene: NIPBL as Red List (low evidence)
BabyScreen+ newborn screening v0.441 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.440 NIPBL Zornitza Stark reviewed gene: NIPBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 1, MIM# 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.440 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
BabyScreen+ newborn screening v0.440 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.440 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, autosomal recessive to Ichthyosis, congenital, autosomal recessive 6, MIM# 612281
BabyScreen+ newborn screening v0.439 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
BabyScreen+ newborn screening v0.438 NIPAL4 Zornitza Stark reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 6, MIM# 612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.438 OFD1 David Amor reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome I; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.438 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
BabyScreen+ newborn screening v0.438 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.438 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Myoclonic epilepsy of Lafora to Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780
BabyScreen+ newborn screening v0.437 NHLRC1 Zornitza Stark Classified gene: NHLRC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.437 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.436 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.436 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
BabyScreen+ newborn screening v0.436 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.436 NHEJ1 Zornitza Stark Tag treatable tag was added to gene: NHEJ1.
BabyScreen+ newborn screening v0.436 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.436 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
BabyScreen+ newborn screening v0.436 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.436 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, multifocal epilepsy & abnormal liver function to Congenital disorder of deglycosylation, MIM# 615273
BabyScreen+ newborn screening v0.435 NGLY1 Zornitza Stark Classified gene: NGLY1 as Red List (low evidence)
BabyScreen+ newborn screening v0.435 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.434 NGLY1 Zornitza Stark reviewed gene: NGLY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.434 NF2 Zornitza Stark Marked gene: NF2 as ready
BabyScreen+ newborn screening v0.434 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.434 NF2 Zornitza Stark Phenotypes for gene: NF2 were changed from Neurofibromatosis 2 to Neurofibromatosis, type 2 (MIM# 101000)
BabyScreen+ newborn screening v0.433 NF2 Zornitza Stark Classified gene: NF2 as Red List (low evidence)
BabyScreen+ newborn screening v0.433 NF2 Zornitza Stark Gene: nf2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.432 NF2 Zornitza Stark reviewed gene: NF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2 (MIM# 101000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.432 NF1 Zornitza Stark Marked gene: NF1 as ready
BabyScreen+ newborn screening v0.432 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.432 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, MIM# 162200
BabyScreen+ newborn screening v0.431 NF1 Zornitza Stark Publications for gene: NF1 were set to
BabyScreen+ newborn screening v0.430 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1, MIM# 162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.430 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
BabyScreen+ newborn screening v0.430 NEUROG3 Zornitza Stark Gene: neurog3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.430 NEUROG3 Zornitza Stark Tag treatable tag was added to gene: NEUROG3.
BabyScreen+ newborn screening v0.430 NEUROG3 Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.430 NEU1 Zornitza Stark Marked gene: NEU1 as ready
BabyScreen+ newborn screening v0.430 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.430 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis to Sialidosis, type I and type II, MIM# 256550
BabyScreen+ newborn screening v0.429 NEU1 Zornitza Stark Classified gene: NEU1 as Red List (low evidence)
BabyScreen+ newborn screening v0.429 NEU1 Zornitza Stark Gene: neu1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.428 NEU1 Zornitza Stark reviewed gene: NEU1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialidosis, type I and type II, MIM# 256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.428 NEK8 Zornitza Stark Marked gene: NEK8 as ready
BabyScreen+ newborn screening v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.428 NEK8 Zornitza Stark Classified gene: NEK8 as Red List (low evidence)
BabyScreen+ newborn screening v0.428 NEK8 Zornitza Stark Gene: nek8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.427 NEK8 Zornitza Stark reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.427 NEK1 Zornitza Stark Marked gene: NEK1 as ready
BabyScreen+ newborn screening v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.427 NEK1 Zornitza Stark Classified gene: NEK1 as Red List (low evidence)
BabyScreen+ newborn screening v0.427 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.426 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.426 NEFL Zornitza Stark Marked gene: NEFL as ready
BabyScreen+ newborn screening v0.426 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.426 NEFL Zornitza Stark Phenotypes for gene: NEFL were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684
BabyScreen+ newborn screening v0.425 OCRL David Amor reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.425 NEFL Zornitza Stark Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.424 NEFL Zornitza Stark Classified gene: NEFL as Red List (low evidence)
BabyScreen+ newborn screening v0.424 NEFL Zornitza Stark Gene: nefl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.423 NEFL Zornitza Stark reviewed gene: NEFL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882, Charcot-Marie-Tooth disease, type 1F, MIM# 607734, Charcot-Marie-Tooth disease, type 2E 607684; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.423 NEB Zornitza Stark Marked gene: NEB as ready
BabyScreen+ newborn screening v0.423 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.423 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy to Nemaline myopathy 2, autosomal recessive 256030; Arthrogryposis multiplex congenita 6, MIM# 619334
BabyScreen+ newborn screening v0.422 NEB Zornitza Stark Classified gene: NEB as Red List (low evidence)
BabyScreen+ newborn screening v0.422 NEB Zornitza Stark Gene: neb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.421 NEB Zornitza Stark reviewed gene: NEB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.421 NDP Zornitza Stark Marked gene: NDP as ready
BabyScreen+ newborn screening v0.421 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.421 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease to Norrie disease, MIM# 310600
BabyScreen+ newborn screening v0.420 NDP Zornitza Stark Classified gene: NDP as Red List (low evidence)
BabyScreen+ newborn screening v0.420 NDP Zornitza Stark Gene: ndp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.419 NDP Zornitza Stark reviewed gene: NDP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.419 NCF2 Zornitza Stark Marked gene: NCF2 as ready
BabyScreen+ newborn screening v0.419 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.419 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
BabyScreen+ newborn screening v0.418 NCF2 Zornitza Stark Tag treatable tag was added to gene: NCF2.
BabyScreen+ newborn screening v0.418 NCF2 Zornitza Stark reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.418 OCA2 David Amor reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.418 NCF1 Zornitza Stark Marked gene: NCF1 as ready
BabyScreen+ newborn screening v0.418 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.418 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
BabyScreen+ newborn screening v0.417 NCF1 Zornitza Stark Tag treatable tag was added to gene: NCF1.
BabyScreen+ newborn screening v0.417 NCF1 Zornitza Stark reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.417 NBN Zornitza Stark Marked gene: NBN as ready
BabyScreen+ newborn screening v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.417 NBN Zornitza Stark Classified gene: NBN as Red List (low evidence)
BabyScreen+ newborn screening v0.417 NBN Zornitza Stark Gene: nbn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.416 NBN Zornitza Stark Tag for review tag was added to gene: NBN.
BabyScreen+ newborn screening v0.416 NBN Zornitza Stark reviewed gene: NBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nijmegen breakage syndrome, MIM# 251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.416 NAGS Zornitza Stark Marked gene: NAGS as ready
BabyScreen+ newborn screening v0.416 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.416 NAGS Zornitza Stark Tag treatable tag was added to gene: NAGS.
BabyScreen+ newborn screening v0.416 NAGS Zornitza Stark reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency - MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.416 OBSL1 David Amor reviewed gene: OBSL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.416 NAGLU Zornitza Stark Marked gene: NAGLU as ready
BabyScreen+ newborn screening v0.416 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.416 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Sanfilippo syndrome type B to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
BabyScreen+ newborn screening v0.415 NAGLU Zornitza Stark Tag treatable tag was added to gene: NAGLU.
BabyScreen+ newborn screening v0.415 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.415 NAGA Zornitza Stark Marked gene: NAGA as ready
BabyScreen+ newborn screening v0.415 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.415 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from N-acetylgalactosaminidase alpha deficiency to Kanzaki disease, MIM# 609242
BabyScreen+ newborn screening v0.414 NAGA Zornitza Stark Classified gene: NAGA as Red List (low evidence)
BabyScreen+ newborn screening v0.414 NAGA Zornitza Stark Gene: naga has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.413 NAGA Zornitza Stark reviewed gene: NAGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kanzaki disease, MIM# 609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.413 MYO9A Zornitza Stark Marked gene: MYO9A as ready
BabyScreen+ newborn screening v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.413 MYO9A Zornitza Stark Classified gene: MYO9A as Red List (low evidence)
BabyScreen+ newborn screening v0.413 MYO9A Zornitza Stark Gene: myo9a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.412 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.412 NEU1 David Amor edited their review of gene: NEU1: Changed rating: RED
BabyScreen+ newborn screening v0.412 MYO7A Zornitza Stark Marked gene: MYO7A as ready
BabyScreen+ newborn screening v0.412 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.412 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome to Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900
BabyScreen+ newborn screening v0.411 MYO7A Zornitza Stark reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 2, 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.411 MYO6 Zornitza Stark Marked gene: MYO6 as ready
BabyScreen+ newborn screening v0.411 MYO6 Zornitza Stark Gene: myo6 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.411 MYO6 Zornitza Stark Phenotypes for gene: MYO6 were changed from Deafness to Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821
BabyScreen+ newborn screening v0.410 MYO6 Zornitza Stark Mode of inheritance for gene: MYO6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.409 MYO6 Zornitza Stark Tag for review tag was added to gene: MYO6.
BabyScreen+ newborn screening v0.409 MYO6 Zornitza Stark reviewed gene: MYO6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 22, MIM# 606346, Deafness, autosomal recessive 37, MIM# 607821; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.409 MYO3A Zornitza Stark Marked gene: MYO3A as ready
BabyScreen+ newborn screening v0.409 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.409 MYO3A Zornitza Stark Phenotypes for gene: MYO3A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 30, MIM:607101
BabyScreen+ newborn screening v0.408 MYO3A Zornitza Stark Classified gene: MYO3A as Red List (low evidence)
BabyScreen+ newborn screening v0.408 MYO3A Zornitza Stark Gene: myo3a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.407 MYO3A Zornitza Stark reviewed gene: MYO3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.407 MYO15A Zornitza Stark Marked gene: MYO15A as ready
BabyScreen+ newborn screening v0.407 MYO15A Zornitza Stark Gene: myo15a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.407 MYO15A Zornitza Stark Phenotypes for gene: MYO15A were changed from Sensorineural hearing loss to Deafness, autosomal recessive 3, MIM# 600316
BabyScreen+ newborn screening v0.406 MYO15A Zornitza Stark reviewed gene: MYO15A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 3, MIM# 600316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.406 MYH9 Zornitza Stark Marked gene: MYH9 as ready
BabyScreen+ newborn screening v0.406 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.406 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from Macrothrombocytopenia and progressive sensorineural deafness to Deafness, autosomal dominant 17, MIM# 603622; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
BabyScreen+ newborn screening v0.405 MYH9 Zornitza Stark Classified gene: MYH9 as Red List (low evidence)
BabyScreen+ newborn screening v0.405 MYH9 Zornitza Stark Gene: myh9 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.404 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 17, MIM# 603622, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.404 MYH7 Zornitza Stark Marked gene: MYH7 as ready
BabyScreen+ newborn screening v0.404 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.404 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.403 MYH7 Zornitza Stark Classified gene: MYH7 as Red List (low evidence)
BabyScreen+ newborn screening v0.403 MYH7 Zornitza Stark Gene: myh7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.402 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426 MONDO:0013262, Cardiomyopathy, hypertrophic, 1, MIM# 192600, Laing distal myopathy, MIM# 160500, Myopathy, myosin storage, autosomal dominant, MIM# 608358, Myopathy, myosin storage, autosomal recessive, MIM# 255160; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.402 MYH3 Zornitza Stark Marked gene: MYH3 as ready
BabyScreen+ newborn screening v0.402 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.402 MYH3 Zornitza Stark Phenotypes for gene: MYH3 were changed from Arthrogryposis, distal to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
BabyScreen+ newborn screening v0.401 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.400 MYH3 Zornitza Stark Classified gene: MYH3 as Red List (low evidence)
BabyScreen+ newborn screening v0.400 MYH3 Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.399 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.399 MYH2 Zornitza Stark Marked gene: MYH2 as ready
BabyScreen+ newborn screening v0.399 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.399 MYH2 Zornitza Stark Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia to Proximal myopathy and ophthalmoplegia, MIM# 605637
BabyScreen+ newborn screening v0.398 MYH2 Zornitza Stark Classified gene: MYH2 as Red List (low evidence)
BabyScreen+ newborn screening v0.398 MYH2 Zornitza Stark Gene: myh2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.397 MYH2 Zornitza Stark reviewed gene: MYH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Proximal myopathy and ophthalmoplegia, MIM# 605637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.397 MYH14 Zornitza Stark Marked gene: MYH14 as ready
BabyScreen+ newborn screening v0.397 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.397 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
BabyScreen+ newborn screening v0.396 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
BabyScreen+ newborn screening v0.395 MYH14 Zornitza Stark Classified gene: MYH14 as Red List (low evidence)
BabyScreen+ newborn screening v0.395 MYH14 Zornitza Stark Gene: myh14 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.394 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.394 MYCN Zornitza Stark Marked gene: MYCN as ready
BabyScreen+ newborn screening v0.394 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.394 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from Feingold syndrome to Feingold syndrome 1, MIM# 164280
BabyScreen+ newborn screening v0.393 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
BabyScreen+ newborn screening v0.393 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.392 MYCN Zornitza Stark reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Feingold syndrome 1, MIM# 164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.392 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
BabyScreen+ newborn screening v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.392 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.392 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.391 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.391 MVK Zornitza Stark Marked gene: MVK as ready
BabyScreen+ newborn screening v0.391 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.391 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 to Mevalonic aciduria, MIM# 610377
BabyScreen+ newborn screening v0.390 MVK Zornitza Stark Publications for gene: MVK were set to
BabyScreen+ newborn screening v0.389 MVK Zornitza Stark Tag treatable tag was added to gene: MVK.
BabyScreen+ newborn screening v0.389 MVK Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.389 XPA Zornitza Stark Marked gene: XPA as ready
BabyScreen+ newborn screening v0.389 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.389 XPA Zornitza Stark Phenotypes for gene: XPA were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group A MIM#278700
BabyScreen+ newborn screening v0.388 XPA Zornitza Stark Tag treatable tag was added to gene: XPA.
Tag clinical trial tag was added to gene: XPA.
Mendeliome v1.348 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to 20832341
BabyScreen+ newborn screening v0.388 XPC Zornitza Stark Marked gene: XPC as ready
BabyScreen+ newborn screening v0.388 XPC Zornitza Stark Gene: xpc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.388 XPC Zornitza Stark Phenotypes for gene: XPC were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group C MIM#278720
BabyScreen+ newborn screening v0.387 XPC Zornitza Stark Publications for gene: XPC were set to
BabyScreen+ newborn screening v0.386 XPC Zornitza Stark Tag treatable tag was added to gene: XPC.
Tag clinical trial tag was added to gene: XPC.
Mendeliome v1.347 TRAF3 Zornitza Stark Classified gene: TRAF3 as Green List (high evidence)