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Intellectual disability v3.977 SIAH1 Arina Puzriakova Classified gene: SIAH1 as Amber List (moderate evidence)
Intellectual disability v3.977 SIAH1 Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases (5) to promote this gene to Green at the next GMS panel update. Developmental delay, including cognitive impairment, was a key presenting feature of the disease phenotype. Inclusion on this panel would also cover the infantile hypotonia element as the ID panel is a component panel of the 'Hypotonic infant, R69' super panel.
Intellectual disability v3.977 SIAH1 Arina Puzriakova Gene: siah1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.976 SIAH1 Arina Puzriakova gene: SIAH1 was added
gene: SIAH1 was added to Intellectual disability. Sources: Literature
Q2_21_rating tags were added to gene: SIAH1.
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia
Review for gene: SIAH1 was set to GREEN
Added comment: - PMID: 32430360 (2021) - Five unrelated individuals with shared features of developmental delay, infantile hypotonia, dysmorphic features and laryngomalacia. All had speech delay and where cognitive assessment was age appropriate individuals exhibited learning difficulties. Trio WES revealed distinct de novo variants in SIAH1. In vitro assays demonstrated that SIAH1 mutants induce loss of Wnt stimulatory activity.
Sources: Literature
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Classified gene: SYCP2L as Amber List (moderate evidence)
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Added comment: Comment on list classification: Only 2 unrelated individuals in literature at present (PMID:32303603) and therefore rating Amber until further cases are reported.
Primary ovarian insufficiency v1.21 SYCP2L Arina Puzriakova Gene: sycp2l has been classified as Amber List (Moderate Evidence).
Primary ovarian insufficiency v1.20 SYCP2L Arina Puzriakova gene: SYCP2L was added
gene: SYCP2L was added to Primary ovarian insufficiency. Sources: Literature
Mode of inheritance for gene: SYCP2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYCP2L were set to 32303603
Phenotypes for gene: SYCP2L were set to Premature ovarian insufficiency
Review for gene: SYCP2L was set to AMBER
Added comment: - PMID: 32303603 (2021) - Two unrelated individuals with premature ovarian insufficiency and homozygous variants (c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L.
In vitro assays revealed that mutant SYCP2L proteins induced mislocalisation and reduced expression. Sycp2l knockout mice exhibit accelerated reproductive ageing.
Sources: Literature
Cytopenia - NOT Fanconi anaemia v1.35 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v2.83 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Review for gene: EN1 was set to GREEN
gene: EN1 was marked as current diagnostic
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.

Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.

Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Genomic imprinting v0.94 DLK1 Zornitza Stark reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324015, 30462238; Phenotypes: central precocious puberty; Mode of inheritance: None
Intellectual disability v3.975 EIF5A Zornitza Stark gene: EIF5A was added
gene: EIF5A was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to Intellectual disability; microcephaly; dysmorphism
Review for gene: EIF5A was set to GREEN
Added comment: 7 unrelated individuals reported with de novo variants in this gene and variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism.
Sources: Literature
Mitochondrial disorders v2.20 POLRMT Zornitza Stark Deleted their comment
Mitochondrial disorders v2.20 POLRMT Zornitza Stark edited their review of gene: POLRMT: Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.; Changed rating: GREEN; Changed publications: 33602924; Changed phenotypes: Mitochondrial disorder, intellectual disability, hypotonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Ichthyosis and erythrokeratoderma v1.6 PERP Zornitza Stark edited their review of gene: PERP: Added comment: Four families reported with heterozygous variants and Olmsted syndrome-2 (OLMS2), which is characterised by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair.

Two families reported with bi-allelic variants and Erythrokeratodermia variabilis et progressiva-7 (EKVP7), which is characterised by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present.; Changed rating: GREEN; Changed publications: 31898316, 30321533, 31361044; Changed phenotypes: Olmsted syndrome 2, MIM# 619208, Erythrokeratodermia variabilis et progressiva 7, MIM# 619209; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Hereditary neuropathy NOT PMP22 copy number v1.23 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770
Phenotypes for gene: SPTAN1 were set to Hereditary motor neuropathy
Review for gene: SPTAN1 was set to GREEN
gene: SPTAN1 was marked as current diagnostic
Added comment: Gene previously associated with DEE.

PMID 32811770: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Sources: Literature
Neurodegenerative disorders - adult onset v2.42 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSAP were set to 32201884
Phenotypes for gene: PSAP were set to Parkinson disease, AD
Review for gene: PSAP was set to GREEN
Added comment: Well established gene-disease association for bi-allelic variants.

Now early-onset PD reported with mono-allelic variants. 6 affecteds from 3 families. Age of onset ranges from 33-60. Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration.
Sources: Literature
Intellectual disability v3.975 MED27 Zornitza Stark gene: MED27 was added
gene: MED27 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Intellectual disability; cerebellar hypoplasia; dystonia
Review for gene: MED27 was set to GREEN
gene: MED27 was marked as current diagnostic
Added comment: 16 patients from 11 families reported
Sources: Literature
Intellectual disability v3.975 SPEN Zornitza Stark edited their review of gene: SPEN: Added comment: PMID: 33596411
- 34 individuals with truncating variants in SPEN reported, most are de novo variants.
- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.; Changed rating: GREEN; Changed publications: 33057194, 33596411; Changed phenotypes: Developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI; Set current diagnostic: yes
Bleeding and platelet disorders v1.20 MAST2 Zornitza Stark gene: MAST2 was added
gene: MAST2 was added to Bleeding and platelet disorders. Sources: Literature
Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST2 were set to 33465109
Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis
Review for gene: MAST2 was set to RED
Added comment: Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.

RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets.
Sources: Literature
Cerebral vascular malformations v2.8 ANGPTL6 Zornitza Stark gene: ANGPTL6 was added
gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPTL6 were set to 29304371; 33106390
Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm
Review for gene: ANGPTL6 was set to GREEN
gene: ANGPTL6 was marked as current diagnostic
Added comment: Six unrelated families reported.
Sources: Literature
Neurological ciliopathies v1.15 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439; 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185
Review for gene: TOGARAM1 was set to GREEN
Added comment: Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Congenital myopathy v2.28 ASCC3 Zornitza Stark gene: ASCC3 was added
gene: ASCC3 was added to Congenital myopathy. Sources: Literature
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024
Phenotypes for gene: ASCC3 were set to congenital myopathy
Review for gene: ASCC3 was set to GREEN
Added comment: 11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: Literature
Lysosomal storage disorder v1.11 ARSG Zornitza Stark reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33300174; Phenotypes: Usher syndrome, type IV MIM#618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hearing loss v2.156 CRYM Zornitza Stark reviewed gene: CRYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32742378, 12471561, 16740909, 18448257, 24676347, 26915689; Phenotypes: Deafness, autosomal dominant 40 MIM#616357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia v1.212 EEF2 Eleanor Williams commented on gene: EEF2: Waiting on opinion of Genomics England clinical team as to rating and additional panels for this gene.
Hereditary ataxia v1.212 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hereditary ataxia. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 23001565; 33355653
Phenotypes for gene: EEF2 were set to Spinocerebellar ataxia 26 OMIM:609306
Review for gene: EEF2 was set to AMBER
Added comment: Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case.

PMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity.

PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Lysosomal storage disorder v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.10 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Lysosomal storage disorder v1.9 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Lysosomal storage disorder v1.8 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Lysosomal storage disorder v1.7 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis 228000 to Farber lipogranulomatosis OMIM:228000; Farber lipogranulomatosis MONDO:0009218
Lysosomal storage disorder v1.6 ARSB Sarah Leigh Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200; mucopolysaccharidosis type 6 MONDO:0009661
Lysosomal storage disorder v1.5 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy 250100 to Metachromatic leukodystrophy OMIM:250100; metachromatic leukodystrophy, juvenile form MONDO:0009591
Lysosomal storage disorder v1.4 AGA Sarah Leigh Phenotypes for gene: AGA were changed from Aspartylglucosaminuria 208400 to Aspartylglucosaminuria OMIM:208400; aspartylglucosaminuria MONDO:0008830
Lipoprotein lipase deficiency v1.15 LIPI Sarah Leigh Phenotypes for gene: LIPI were changed from hypertriglyceridemia to hypertriglyceridemia (disease) MONDO:0005347
Lipoprotein lipase deficiency v1.14 LPL Sarah Leigh Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 to Lipoprotein lipase deficiency OMIM:238600; familial lipoprotein lipase deficiency MONDO:0009387; Combined hyperlipidemia, familial OMIM:144250; hyperlipidemia, familial combined, LPL related MONDO:0007759
Lipoprotein lipase deficiency v1.13 LMF1 Sarah Leigh Phenotypes for gene: LMF1 were changed from Lipase deficiency, combined 246650 to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527
Lipoprotein lipase deficiency v1.12 GPIHBP1 Sarah Leigh Phenotypes for gene: GPIHBP1 were changed from Hyperlipoproteinemia, type 1D 615947 to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412
Lipoprotein lipase deficiency v1.11 GPD1 Sarah Leigh Phenotypes for gene: GPD1 were changed from Hypertriglyceridemia, transient infantile 614480 to Hypertriglyceridemia, transient infantile OMIM:614480; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Lipoprotein lipase deficiency v1.10 CREB3L3 Sarah Leigh Added comment: Comment on phenotypes: There is not an OMIM or Mondo term for monogenic dominant hypertriglyceridemia associated with CREB3L3, so MONDO:0005347 has been used as a broader term
Lipoprotein lipase deficiency v1.10 CREB3L3 Sarah Leigh Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to hypertriglyceridemia (disease) MONDO:0005347
Lipoprotein lipase deficiency v1.9 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III OMIM:617347; hyperlipoproteinemia type 3 MONDO:0018473; Lipoprotein glomerulopathy OMIM:611771; lipoprotein glomerulopathy MONDO:0012725
Lipoprotein lipase deficiency v1.8 APOE Sarah Leigh Added comment: Comment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310
Lipoprotein lipase deficiency v1.8 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310
Lipoprotein lipase deficiency v1.7 APOC2 Sarah Leigh Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib 207750 to Hyperlipoproteinemia, type Ib OMIM:207750
Lipoprotein lipase deficiency v1.6 APOB Sarah Leigh Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252
Lipoprotein lipase deficiency v1.5 APOA5 Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases of Amyotrophic lateral sclerosis 19.; Changed rating: GREEN
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neurodegenerative disorders - adult onset v2.42 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders - adult onset v2.41 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from Amyotrophic lateral sclerosis 19, 615515 to Amyotrophic lateral sclerosis 19 OMIM:615515; amyotrophic lateral sclerosis type 19 MONDO:0014223
Neurodegenerative disorders - adult onset v2.40 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 24119685
Intellectual disability v3.975 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123; 15219717; 30498032
Intellectual disability v3.974 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Intellectual disability v3.974 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability v3.973 ERBB4 Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of structural variants.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of copy number variants.
Intellectual disability v3.973 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. PMID 33603162 reports that at least six 2q34 deletions resulting in exon loss in ERBB4 may cause autosomal dominant mild to moderate developmental delay, ID or epilepsy. Rhodent knock out models support this finding (PMID 15219717;30498032).; Changed rating: GREEN; Changed publications: 15219717, 30498032; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.973 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Intellectual disability v3.973 ERBB4 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of structural variants.
Intellectual disability v3.973 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.972 ERBB4 Sarah Leigh Added comment: Comment on phenotypes: Amyotrophic lateral sclerosis 19 615515 is not appropriate for this panel At present there is no precise ID phenotype associated with variants in this gene.
Intellectual disability v3.972 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from intellectual disability; epilepsy to intellectual disability MONDO:0001071
Intellectual disability v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to Monoallelic MOI until consult with Genomics England clinical team.
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.633 KIDINS220 Eleanor Williams Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity. to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI from monallelic to BOTH as 2 biallelic cases have now been reported with a more severe phenotype
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.631 KIDINS220 Eleanor Williams Publications for gene: KIDINS220 were set to
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 22048169
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures in the following two publications:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 28934391; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited predisposition to acute myeloid leukaemia (AML) v1.19 SRP72 Arina Puzriakova Publications for gene: SRP72 were set to 23926458; 28600339
Inherited predisposition to acute myeloid leukaemia (AML) v1.18 SAMD9 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with MIRAGE syndrome (MIM# 617053) and Tumoral calcinosis, familial, normophosphatemic (MIM# 610455)
Inherited predisposition to acute myeloid leukaemia (AML) v1.18 SAMD9 Arina Puzriakova Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041
Inherited predisposition to acute myeloid leukaemia (AML) v1.17 SAMD9 Arina Puzriakova Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883
Inherited predisposition to acute myeloid leukaemia (AML) v1.16 RTEL1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (MIM# 616373)
Inherited predisposition to acute myeloid leukaemia (AML) v1.16 RTEL1 Arina Puzriakova Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 to Dyskeratosis congenita, autosomal dominant 4, OMIM:615190; Dyskeratosis congenita, autosomal recessive 5, OMIM:615190
Inherited predisposition to acute myeloid leukaemia (AML) v1.15 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Adrenocortical carcinoma, pediatric} (MIM#202300); {Basal cell carcinoma 7} (MIM# 614740), {Choroid plexus papilloma} (MIM# 260500); {Colorectal cancer}, (MIM# 114500); {Glioma susceptibility 1} (MIM# 137800); {Osteosarcoma} (MIM# 259500); Bone marrow failure syndrome 5 (MIM# 618165); Breast cancer, somatic (MIM# 114480); Hepatocellular carcinoma, somatic (MIM# 114550); Nasopharyngeal carcinoma, somatic (MIM# 607107); Pancreatic cancer, somatic (MIM# 260350)
Inherited predisposition to acute myeloid leukaemia (AML) v1.14 TP53 Arina Puzriakova Phenotypes for gene: TP53 were changed from 151623 (OMIM phenotype description ID); 151623 Li-Fraumeni syndrome to Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome 1, MONDO:0007903
Inherited predisposition to acute myeloid leukaemia (AML) v1.13 TERT Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (MIM# 614742) and Melanoma, cutaneous malignant, 9 (MIM# 615134)
Inherited predisposition to acute myeloid leukaemia (AML) v1.13 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Inherited predisposition to acute myeloid leukaemia (AML) v1.12 TERC Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis, idiopathic, susceptibility to (MIM#614743)
Inherited predisposition to acute myeloid leukaemia (AML) v1.12 TERC Arina Puzriakova Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743 to Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; {Aplastic anemia}, OMIM:614743
Inherited predisposition to acute myeloid leukaemia (AML) v1.11 RUNX1 Arina Puzriakova Phenotypes for gene: RUNX1 were changed from 601399 (OMIM phenotype description ID); 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy to Leukemia, acute myeloid, OMIM:601626; Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399
Inherited predisposition to acute myeloid leukaemia (AML) v1.10 GATA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Immunodeficiency 21 (MIM# 614172)
Inherited predisposition to acute myeloid leukaemia (AML) v1.10 GATA2 Arina Puzriakova Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to} to {Leukemia, acute myeloid, susceptibility to}, OMIM:601626; {Myelodysplastic syndrome, susceptibility to}, OMIM:614286; Emberger syndrome, OMIM:614038
Stickler syndrome v2.16 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.15 LOXL3 Ivone Leong Phenotypes for gene: LOXL3 were changed from Stickler syndrome to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.14 BMP4 Ivone Leong Phenotypes for gene: BMP4 were changed from to Stickler syndrome, MONDO:0019354
Stickler syndrome v2.13 GZF1 Ivone Leong Phenotypes for gene: GZF1 were changed from Larsen syndrome to Larsen syndrome, MONDO:0007875
Stickler syndrome v2.12 COL9A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia
Stickler syndrome v2.12 COL9A3 Ivone Leong Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354
Inherited predisposition to acute myeloid leukaemia (AML) v1.9 ETV6 Arina Puzriakova Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to Leukemia, acute myeloid, somatic, OMIM:601626; Thrombocytopenia 5, OMIM:616216; Acute myeloid leukemia, MONDO:0018874
Stickler syndrome v2.11 COL9A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 2, 600204;{Intervertebral disc disease, susceptibility to}, 603932;Stickler syndrome, type V, 614284
Stickler syndrome v2.11 COL9A2 Ivone Leong Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to ?Stickler syndrome, type V, OMIM:614284
Stickler syndrome v2.10 COL9A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 6, 614135;Stickler syndrome, type IV, 614134;Stickler Syndrome, Recessive
Stickler syndrome v2.10 COL9A1 Ivone Leong Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135; Stickler syndrome, type IV, 614134; Stickler Syndrome, Recessive to Stickler syndrome, type IV, OMIM:614134
Stickler syndrome v2.9 COL2A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
Stickler syndrome v2.9 COL2A1 Ivone Leong Phenotypes for gene: COL2A1 were changed from Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 to Stickler syndrome, type I, OMIM:108300
Stickler syndrome v2.8 COL2A1 Ivone Leong Publications for gene: COL2A1 were set to PMID: 16752401; 20513134
Stickler syndrome v2.7 COL11A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler Syndrome, Dominant;Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524
Stickler syndrome v2.7 COL11A2 Ivone Leong Phenotypes for gene: COL11A2 were changed from Stickler Syndrome, Dominant; Stickler syndrome, type III, 184840; Otospondylomegaepiphyseal dysplasia, 215150; Weissenbacher-Zweymuller syndrome, 277610; Deafness, autosomal dominant 13, 601868; Deafness, autosomal recessive 53, 609706; Fibrochondrogenesis 2, 614524 to Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840
Inherited predisposition to acute myeloid leukaemia (AML) v1.8 ETV6 Arina Puzriakova Publications for gene: ETV6 were set to 28600339
Stickler syndrome v2.6 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Inherited predisposition to acute myeloid leukaemia (AML) v1.7 DDX41 Arina Puzriakova Phenotypes for gene: DDX41 were changed from 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; 616871 (OMIM phenotype description ID) to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871; DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809
Stickler syndrome v2.5 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841
Stickler syndrome v2.4 COL11A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520
Stickler syndrome v2.4 COL11A1 Ivone Leong Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841
Inherited predisposition to acute myeloid leukaemia (AML) v1.6 CEBPA Arina Puzriakova Phenotypes for gene: CEBPA were changed from 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID); 116897 / 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to ?Leukemia, acute myeloid, OMIM:601626; Leukemia, acute myeloid, somatic, OMIM:601626; Acute myeloid leukemia, MONDO:0018874
Inherited predisposition to acute myeloid leukaemia (AML) v1.5 ANKRD26 Arina Puzriakova Phenotypes for gene: ANKRD26 were changed from 610855; 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) to Thrombocytopenia 2, OMIM:188000; Acute myeloid leukemia, MONDO:0018874
Congenital fibrosis of the extraocular muscles v1.11 TUBB2B Ivone Leong Publications for gene: TUBB2B were set to 23001566
Congenital fibrosis of the extraocular muscles v1.10 TUBB2B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with ortical dysplasia, complex, with other brain malformations 7
Congenital fibrosis of the extraocular muscles v1.10 TUBB2B Ivone Leong Phenotypes for gene: TUBB2B were changed from Cortical dysplasia, complex, with other brain malformations 7; Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614
Congenital fibrosis of the extraocular muscles v1.9 GRHL2 Ivone Leong Phenotypes for gene: GRHL2 were changed from Fibrosis of extraocular muscles, congenital to congenital fibrosis of extraocular muscles, MONDO:0007614
Congenital fibrosis of the extraocular muscles v1.8 COL25A1 Ivone Leong Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5 616219; Fibrosis of extraocular muscles, congenital, 5 to Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Congenital fibrosis of the extraocular muscles v1.7 TUBB3 Ivone Leong Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638
Congenital fibrosis of the extraocular muscles v1.6 PHOX2A Ivone Leong Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, OMIM:602078
Congenital fibrosis of the extraocular muscles v1.5 KIF21A Ivone Leong Phenotypes for gene: KIF21A were changed from Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, OMIM:135700; Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700
Aniridia v2.12 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3, 617142 to ?Aniridia 3, OMIM:617142
Aniridia v2.11 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141 to ?Aniridia 2, OMIM:617141
Aniridia v2.10 PITX2 Ivone Leong Phenotypes for gene: PITX2 were changed from to Aniridia, MONDO:0019172
Aniridia v2.9 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210 to Aniridia, OMIM:106210
Aniridia v2.8 ITPR1 Ivone Leong Phenotypes for gene: ITPR1 were changed from Gillespie syndrome 206700 to Gillespie syndrome, OMIM:206700
Aniridia v2.7 FOXC1 Ivone Leong Phenotypes for gene: FOXC1 were changed from to Aniridia, MONDO:0019172
Monogenic diabetes v2.13 GATA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis and congenital heart defects;PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.13 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.12 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Pancreatic agenesis and/or congenital heart defects;Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.12 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes; Pancreatic agenesis and/or congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to NEONATAL DIABETES MELLITUS, MONDO:0016391; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.11 DYRK1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)
Monogenic diabetes v2.11 DYRK1B Ivone Leong Phenotypes for gene: DYRK1B were changed from Abdominal obesity-metabolic syndrome 3, 615812; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) to Abdominal obesity-metabolic syndrome 3, OMIM:615812
Monogenic diabetes v2.10 DNAJC3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192;Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration
Monogenic diabetes v2.10 DNAJC3 Ivone Leong Phenotypes for gene: DNAJC3 were changed from ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192; Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, OMIM:616192; juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523
Monogenic diabetes v2.9 DCAF17 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Woodhouse-Sakati syndrome, 241080;Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)
Monogenic diabetes v2.9 DCAF17 Ivone Leong Phenotypes for gene: DCAF17 were changed from Woodhouse-Sakati syndrome, 241080; Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness) to Woodhouse-Sakati syndrome, OMIM:241080
Monogenic diabetes v2.8 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, OMIM:604928
Monogenic diabetes v2.7 CEL Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction to Maturity-onset diabetes of the young, type VIII, OMIM:609812; Diabetes and pancreatic exocrine dysfunction
Monogenic diabetes v2.6 APPL1 Ivone Leong Phenotypes for gene: APPL1 were changed from {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes to {Maturity-onset diabetes of the young, type 14}, OMIM:616511
Monogenic diabetes v2.5 ABCC8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, 6;Transient Neonatal Diabetes, Dominant;transient neonatal diabetes (Dominant);Diabetes mellitus, noninsulin-dependent, 125853;DIABETES MELLITUS, NONINSULIN-DEPENDENT;Diabetes mellitus, transient neonatal 2, 610374;Hyperinsulinemic hypoglycemia, familial, 1, 256450;Hypoglycemia of infancy, leucine-sensitive, 240800;Permanent neonatal diabetes mellitus;Permanent Neonatal Diabetes Mellitus (recessive);Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus
Monogenic diabetes v2.5 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, permanent neonatal, 6; Transient Neonatal Diabetes, Dominant; transient neonatal diabetes (Dominant); Diabetes mellitus, noninsulin-dependent, 125853; DIABETES MELLITUS, NONINSULIN-DEPENDENT; Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent neonatal diabetes mellitus; Permanent Neonatal Diabetes Mellitus (recessive); Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6; Permanent Neonatal Diabetes Mellitus to Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant); Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, transient neonatal 2, OMIM:610374; Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)
Inherited polyposis v1.6 BMPR1A Arina Puzriakova Phenotypes for gene: BMPR1A were changed from Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis to Polyposis syndrome, hereditary mixed, 2, OMIM:610069; Polyposis, juvenile intestinal, OMIM:174900
Inherited polyposis v1.5 APC Arina Puzriakova Phenotypes for gene: APC were changed from Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 to Desmoid disease, hereditary, OMIM:135290; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Adenomatous polyposis coli, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182
Diabetes - neonatal onset v2.33 AGPAT2 Ivone Leong Phenotypes for gene: AGPAT2 were changed from neonatal diabetes mellitus to neonatal diabetes mellitus, MONDO:0016391
Diabetes - neonatal onset v2.32 AGPAT2 Ivone Leong Publications for gene: AGPAT2 were set to Poovazhagi et al., Int J Diabetes Dev Ctries (January–March 2013) 33(1):66–68, DOI 10.1007/s13410-012-0099-6
Diabetes - neonatal onset v2.31 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes, Recessive; Transient Neonatal Diabetes to Diabetes mellitus, transient neonatal, 1, OMIM:601410
Diabetes - neonatal onset v2.30 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from Syndromic neonatal diabetes; Wolfram syndrome, 222300 to Wolfram-like syndrome, autosomal dominant, OMIM:614296
Inherited pancreatic cancer v1.17 STK11 Arina Puzriakova Phenotypes for gene: STK11 were changed from to Pancreatic cancer, somatic, OMIM:260350
Inherited pancreatic cancer v1.16 RABL3 Arina Puzriakova Phenotypes for gene: RABL3 were changed from Hereditary pancreatic cancer to {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680; Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Diabetes - neonatal onset v2.29 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes and additional multi-organ autoimmunity;permanent neonatal diabetes;Neonatal diabetes and early-onset multi-organ autoimmune disease
Diabetes - neonatal onset v2.29 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from Neonatal diabetes and additional multi-organ autoimmunity; permanent neonatal diabetes; Neonatal diabetes and early-onset multi-organ autoimmune disease to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pancreatitis, hereditary (MIM#167800)
Inherited pancreatic cancer v1.15 PRSS1 Arina Puzriakova Phenotypes for gene: PRSS1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Diabetes - neonatal onset v2.28 SLC2A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Fanconi-Bickel syndrome, 227810;neonatal diabetes mellitus;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes (PDNM);Fanconi Bickel Syndrome;neonatal diabetes;short stature;hepatomegaly, RTA and hypophosphatemic rickets
Diabetes - neonatal onset v2.28 SLC2A2 Ivone Leong Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810; neonatal diabetes mellitus; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes (PDNM); Fanconi Bickel Syndrome; neonatal diabetes; short stature; hepatomegaly, RTA and hypophosphatemic rickets to Fanconi-Bickel syndrome, OMIM:227810; neonatal diabetes mellitus, MONDO:0016391; transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164
Inherited pancreatic cancer v1.14 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited pancreatic cancer v1.14 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.13 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited pancreatic cancer v1.13 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited pancreatic cancer v1.12 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited pancreatic cancer v1.12 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Diabetes - neonatal onset v2.27 SLC19A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thiamine-responsive megaloblastic anemia syndrome, 249270;neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA);permanent neonatal diabetes (PNDM);Thiamine responsive megaloblastic anaemia;neonatal diabetes
Diabetes - neonatal onset v2.27 SLC19A2 Ivone Leong Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270; neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia (TRMA); permanent neonatal diabetes (PNDM); Thiamine responsive megaloblastic anaemia; neonatal diabetes to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Diabetes - neonatal onset v2.26 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710 (includes neonatal diabetes);Syndromic Neonatal diabetes;pancreatic hypoplasia, gallbladder aplasia and intestinal atresia;Mitchell-Riley syndrome
Diabetes - neonatal onset v2.26 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome to Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)
Diabetes - neonatal onset v2.25 PTF1A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069;Permanent neonatal diabetes mellitus (PNDM);Permanent neonatal diabetes with cerebellar agenesis
Diabetes - neonatal onset v2.25 PTF1A Ivone Leong Phenotypes for gene: PTF1A were changed from Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069; Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis to Pancreatic and cerebellar agenesis, OMIM:609069; Permanent neonatal diabetes mellitus, MONDO:0100164; Pancreatic agenesis 2, OMIM:615935
Diabetes - neonatal onset v2.24 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes;pancreas agenesis;permanent neonatal diabetes mellitus associated with pancreas agenesis;Pancreatic agenesis 1, 260370
Diabetes - neonatal onset v2.24 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; pancreas agenesis; permanent neonatal diabetes mellitus associated with pancreas agenesis; Pancreatic agenesis 1, 260370 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392; Permanent neonatal diabetes mellitus, MONDO:0100164; permanent neonatal diabetes mellitus associated with pancreas agenesis
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited pancreatic cancer v1.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Inherited ovarian cancer (without breast cancer) v2.20 MLH1 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320); to: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 609310); Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Diabetes - neonatal onset v2.23 NKX2-2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Diabetes - neonatal onset v2.23 NKX2-2 Ivone Leong Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment to Neonatal diabetes mellitus, MONDO:0016391; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Diabetes - neonatal onset v2.22 NEUROG3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)

Permanent neonatal diabetes mellitus, MONDO:0100164;
Diarrhea 4, malabsorptive, congenital, OMIM:610370
Diabetes - neonatal onset v2.22 NEUROG3 Ivone Leong Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS) to Permanent neonatal diabetes mellitus, MONDO:0100164; Diarrhea 4, malabsorptive, congenital, OMIM:610370
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma, cutaneous malignant, 3} (MIM# 609048)
Inherited pancreatic cancer v1.10 CDK4 Arina Puzriakova Phenotypes for gene: CDK4 were changed from to Malignant pancreatic neoplasm, MONDO:0009831
Diabetes - neonatal onset v2.21 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and cerebellar agenesis;Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus;Maturity-onset diabetes of the young 6, 606394
Diabetes - neonatal onset v2.21 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394 to permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192; Maturity-onset diabetes of the young 6, OMIM:606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
Inherited pancreatic cancer v1.9 CDK4 Arina Puzriakova Mode of pathogenicity for gene: CDK4 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
Diabetes - neonatal onset v2.20 MNX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
Neonatal Diabetes;Permanent neonatal diabetes mellitus (PNDM);Recessive Neonatal diabetes;IUGR;w w/o eatures of Currarrino syndrome and sacral agenesis;Currarino syndrome, 176450
Diabetes - neonatal onset v2.20 MNX1 Ivone Leong Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450 to Neonatal Diabetes Mellitus, MONDO:0016391; Permanent neonatal diabetes mellitus, MONDO:0100164; Currarino syndrome, OMIM:176450
Diabetes - neonatal onset v2.19 LRBA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Immunodysregulation and type 1 diabetes;Immunodeficiency, common variable, 8, with autoimmunity, 614700;IPEX-like syndrome;Neonatal diabetes and additional autoimmunity
Diabetes - neonatal onset v2.19 LRBA Ivone Leong Phenotypes for gene: LRBA were changed from Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity
Diabetes - neonatal onset v2.18 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperinsulinemic hypoglycemia, familial, 2, 601820;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;{Diabetes mellitus, type 2, susceptibility to}, 125853;Diabetes mellitus, transient neonatal, 3, 610582;Transient Neonatal Diabetes, Dominant;Diabetes Mellitus, PermanentNeonatal;Diabetes Mellitus, Transient Neonatal, 3;Transient Neonatal diabetes mellitus (Dominant);Isolated permanent neonatal diabetes;isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Diabetes - neonatal onset v2.18 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; {Diabetes mellitus, type 2, susceptibility to}, 125853; Diabetes mellitus, transient neonatal, 3, 610582; Transient Neonatal Diabetes, Dominant; Diabetes Mellitus, PermanentNeonatal; Diabetes Mellitus, Transient Neonatal, 3; Transient Neonatal diabetes mellitus (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853; Diabetes mellitus, transient neonatal, 3, OMIM:610582; Maturity-onset diabetes of the young, type 13, OMIM:616329
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 1} (MIM# 604370) and Fanconi anemia, complementation group S (MIM# 617883)
Inherited pancreatic cancer v1.8 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from to {Pancreatic cancer, susceptibility to, 4}, OMIM:614320; Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, susceptibility to} (MIM# 114480) and Fanconi anemia, complementation group N (MIM# 610832)
Inherited pancreatic cancer v1.7 PALB2 Arina Puzriakova Phenotypes for gene: PALB2 were changed from to {Pancreatic cancer, susceptibility to, 3}, OMIM:613348; Pancreatic cancer, susceptibility to, 3, MONDO:0013236
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Melanoma and neural system tumor syndrome} (MIM# 155755) and {Melanoma, cutaneous malignant, 2} (MIM# 155601)
Inherited pancreatic cancer v1.6 CDKN2A Arina Puzriakova Phenotypes for gene: CDKN2A were changed from to {Melanoma-pancreatic cancer syndrome}, OMIM:606719; Melanoma-pancreatic cancer syndrome, MONDO:0011713
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast-ovarian cancer, familial, 2} (MIM# 612555); {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited pancreatic cancer v1.5 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from to {Pancreatic cancer 2}, OMIM:613347; Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Diabetes - neonatal onset v2.17 INSR Ivone Leong Phenotypes for gene: INSR were changed from neonatal diabetes; Donohue syndrome, 246200 to neonatal diabetes; Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Rabson-Mendenhall syndrome, OMIM:262190
Inherited ovarian cancer (without breast cancer) v2.20 BRCA2 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724); to: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); {Pancreatic cancer 2} (MIM# 613347); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Hearing loss v2.156 MYO15A Eleanor Williams Phenotypes for gene: MYO15A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 3, 600316; hearing loss to Deafness, autosomal recessive 3 OMIM:600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Hearing loss v2.155 MYO15A Eleanor Williams Publications for gene: MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
Hearing loss v2.154 MYO15A Eleanor Williams reviewed gene: MYO15A: Rating: ; Mode of pathogenicity: None; Publications: 33078831; Phenotypes: Deafness, autosomal recessive 3 OMIM:600316, autosomal recessive nonsyndromic deafness 3 MONDO:0010860; Mode of inheritance: None
Diabetes - neonatal onset v2.16 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852;Transient Neonatal Diabetes, Dominant/Recessive;Permanent Neonatal diabetes mellitus
Diabetes - neonatal onset v2.16 INS Ivone Leong Phenotypes for gene: INS were changed from Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; Permanent Neonatal diabetes mellitus to Hyperproinsulinemia, OMIM:616214; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive); Permanent Neonatal diabetes mellitus, MONDO:010016
Diabetes - neonatal onset v2.15 IL2RA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
neonatal diabetes;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive
Diabetes - neonatal onset v2.15 IL2RA Ivone Leong Phenotypes for gene: IL2RA were changed from neonatal diabetes; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive to neonatal diabetes mellitus, MONDO:0016391; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, OMIM:601942; neonatal diabetes mellitus with congenital hypothyroidism, MONDO:0012436
Diabetes - neonatal onset v2.14 IER3IP1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with neonatal diabetes, permanent neonatal diabetes
Diabetes - neonatal onset v2.14 IER3IP1 Ivone Leong Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes to Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Diabetes - neonatal onset v2.13 HNF1B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient neonatal diabetes;transient neonatal diabetes mellitus (TNDM);permanent neonatal diabetes mellitus;Diabetes mellitus, noninsulin-dependent, 125853;Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Diabetes - neonatal onset v2.13 HNF1B Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; transient neonatal diabetes mellitus (TNDM); permanent neonatal diabetes mellitus; Diabetes mellitus, noninsulin-dependent, 125853; Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW to Transient neonatal diabetes mellitus (disease), MONDO:0020525; permanent neonatal diabetes mellitus, MONDO:0100164; Type 2 diabetes mellitus, OMIM:125853; transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency and low BW
Diabetes - neonatal onset v2.12 GLIS3 Ivone Leong Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism to Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199
Diabetes - neonatal onset v2.11 GCK Ivone Leong Added comment: Comment on phenotypes: Previous phenotype:
MODY, type II, 125851;Diabetes mellitus, noninsulin-dependent, late onset, 125853;Diabetes mellitus, gestational, 125851;Hyperinsulinemic hypoglycemia, familial, 3, 602485;Diabetes mellitus, permanent neonatal, 606176;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes, Recessive;Permanent neonatal diabetes;Fasting hyperglycaemia, permanent neonatal diabetes
Diabetes - neonatal onset v2.11 GCK Ivone Leong Phenotypes for gene: GCK were changed from MODY, type II, 125851; Diabetes mellitus, noninsulin-dependent, late onset, 125853; Diabetes mellitus, gestational, 125851; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Recessive; Permanent neonatal diabetes; Fasting hyperglycaemia, permanent neonatal diabetes to MODY, type II, OMIM:125851; Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853; Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485; Diabetes mellitus, permanent neonatal 1, OMIM:606176; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
Diabetes - neonatal onset v2.10 GATA6 Ivone Leong Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects to Pancreatic agenesis and congenital heart defects, OMIM:600001; neonatal diabetes mellitus, MONDO:0016391
Diabetes - neonatal onset v2.9 GATA4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects;permanent neonatal diabetes melllitus;transient neonatal diabetes melllitus
Diabetes - neonatal onset v2.9 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects; permanent neonatal diabetes melllitus; transient neonatal diabetes melllitus to Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802; permanent neonatal diabetes melllitus, MONDO:0100164; Transient neonatal diabetes mellitus (disease), MONDO:0020525
Diabetes - neonatal onset v2.8 FOXP3 Ivone Leong Phenotypes for gene: FOXP3 were changed from Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)); IPEX syndrome to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
Diabetes - neonatal onset v2.7 EIF2S3 Ivone Leong Phenotypes for gene: EIF2S3 were changed from diabetes; intellectual disability; microcephaly; epilepsy; hypogonadism; hypogenitalism; central obesity; MEHMO syndrome (X-linked NDM and microcephaly),300148 to diabetes mellitus (disease), MONDO:0005015; MEHMO syndrome, OMIM:300148
Diabetes - neonatal onset v2.6 EIF2AK3 Ivone Leong Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (includes onset of diabetes in neonatal period/ early infancy) to Wolcott-Rallison syndrome, OMIM:226980 (includes onset of diabetes in neonatal period/ early infancy)
Hearing loss v2.154 MYO3A Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as biallelic, but note that 2 independent cases of monallelic inheritance have been reported.
Hearing loss v2.154 MYO3A Eleanor Williams Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hearing loss v2.153 MYO3A Eleanor Williams Phenotypes for gene: MYO3A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 30, 607101; hearing loss to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774
Hearing loss v2.152 MYO3A Eleanor Williams Publications for gene: MYO3A were set to PMID:10936054; 12032315; 21165622
Hearing loss v2.151 MYO3A Eleanor Williams reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33078831, 26841241, 29880844; Phenotypes: Deafness, autosomal recessive 30 OMIM:607101, autosomal recessive nonsyndromic deafness 30 MONDO:0011774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4 (MIM# 614337); Mismatch repair cancer syndrome 4 (MIM# 619101)
Inherited ovarian cancer (without breast cancer) v2.20 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.19 RAD51D Arina Puzriakova Phenotypes for gene: RAD51D were changed from {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291; Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669
Inherited ovarian cancer (without breast cancer) v2.18 RAD51D Arina Puzriakova Publications for gene: RAD51D were set to
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group O (MIM# 613390)
Inherited ovarian cancer (without breast cancer) v2.17 RAD51C Arina Puzriakova Phenotypes for gene: RAD51C were changed from Fanconi anemia, complementation group O, 613390; {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399; Breast and Ovarian Cancer; Breast and Ovarian Cancer Susceptibility to {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399; Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253
Inherited ovarian cancer (without breast cancer) v2.16 RAD51C Arina Puzriakova Publications for gene: RAD51C were set to
Hearing loss v2.151 COL9A3 Eleanor Williams Classified gene: COL9A3 as Amber List (moderate evidence)
Hearing loss v2.151 COL9A3 Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber, but there are now 4 cases with homozygous variants in this gene in patients with hearing loss. 2 cases are reported with Stickler syndrome. In the other 2 cases Stickler syndrome was not excluded. The phenotype needs to be reviewed to decide whether to encompass Stickler syndrome genes on this panel.
Hearing loss v2.151 COL9A3 Eleanor Williams Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Inherited ovarian cancer (without breast cancer) v2.15 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Inherited ovarian cancer (without breast cancer) v2.14 MSH6 Arina Puzriakova Publications for gene: MSH6 were set to
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 1 (MIM# 120435); Mismatch repair cancer syndrome 2 (MIM# 619096); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.13 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from Breast and Ovarian Cancer to Ovarian cancer, MONDO:0008170
Hearing loss v2.150 COL9A3 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving as Biallelic mode of inheritance as 4 cases reported with this inheritance pattern. However PMID: 15917166 also reports two cases with an AD pattern of inheritance, but no segregation data to support this.
Hearing loss v2.150 COL9A3 Eleanor Williams Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inherited ovarian cancer (without breast cancer) v2.12 MSH2 Arina Puzriakova Publications for gene: MSH2 were set to
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 2 (MIM# 6093100; Mismatch repair cancer syndrome 1 (MIM# 276300); Muir-Torre syndrome (MIM# 158320)
Inherited ovarian cancer (without breast cancer) v2.11 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Adult Glioma; Colorectal; Endometrial Carcinoma; Hepatopancreatobiliary; Ovarian to Ovarian cancer, MONDO:0008170
Hearing loss v2.149 COL9A3 Eleanor Williams Tag Q2_21_phenotype tag was added to gene: COL9A3.
Hearing loss v2.149 COL9A3 Eleanor Williams edited their review of gene: COL9A3: Changed rating: GREEN
Hearing loss v2.149 COL9A3 Eleanor Williams edited their review of gene: COL9A3: Added comment: PMID: 33078831 - Wonkam et al 2020 - report 2 unrelated patients from Cameroon with autosomal recessive non-syndromic hearing impairment and a homozygous c.G406A, p.G136S variant in COL9A3. This variant is rare (ExAC_AFR MAF = 0, ExAC_ASI MAF = 0.001, Cameroonian controls MAF (N = 129) = 0). However, the authors report that further investigation of these patients is needed to exclude Stickler syndrome.

PMID: 15917166 - Asamura et al 2005 - direct-sequencing of COL9A3 gene in 159 non-syndromic sensorineural deafness patients (Japanese and Korean) and 150 normal controls. 2 possible disease-causing mutations were identified in patients with moderate progressive bilateral sensorineural hearing impairment in all frequencies. : a homozygous in-frame deletion of three amino acid residues (G181-P183 del) in one patient (with consanguineous parents) and a heterozygous missense mutation (D617E) found in 2 independent autosomal dominant families. No segregation data.; Changed publications: 31090205, 24273071, 33078831, 15917166; Changed phenotypes: Stickler syndrome, non-syndromic sensorineural deafness
Inherited ovarian cancer (without breast cancer) v2.10 MLH1 Arina Puzriakova Publications for gene: MLH1 were set to
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group J (MIM# 609054)
Inherited ovarian cancer (without breast cancer) v2.9 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419
Inherited ovarian cancer (without breast cancer) v2.8 BRIP1 Arina Puzriakova Publications for gene: BRIP1 were set to
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Breast cancer, male, susceptibility to} (MIM# 114480); Prostate cancer (MIM# 176807); Wilms tumor (MIM# 194070); {Medulloblastoma} (MIM# 155255); {Glioblastoma 3} (MIM# 613029); Fanconi anemia, complementation group D1 (MIM# 605724)
Inherited ovarian cancer (without breast cancer) v2.7 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with 'Pancreatic cancer, susceptibility to, 4' (MIM# 614320) and 'Fanconi anemia, complementation group S' (MIM# 617883)
Inherited ovarian cancer (without breast cancer) v2.6 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Hereditary breast ovarian cancer syndrome, MONDO:0003582
Inherited MMR deficiency (Lynch syndrome) v1.9 PMS2 Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.8 MSH6 Arina Puzriakova Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM:614350; Colorectal cancer, hereditary nonpolyposis, type 5, MONDO:0013710; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.7 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.6 MSH2 Arina Puzriakova Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Lynch syndrome 1, MONDO:0007356
Inherited MMR deficiency (Lynch syndrome) v1.5 MLH1 Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249
Inherited MMR deficiency (Lynch syndrome) v1.4 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244; Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196
Iron metabolism disorders v1.33 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282 to Emphysema due to AAT deficiency OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders v1.32 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from ALPHA-1-ANTITRYPSIN DEFICIENCY P to ALPHA-1-ANTITRYPSIN DEFICIENCY OMIM:613490; alpha 1-antitrypsin deficiency MONDO:0013282
Iron metabolism disorders v1.31 SERPINA1 Sarah Leigh Phenotypes for gene: SERPINA1 were changed from A1ATD; 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY to ALPHA-1-ANTITRYPSIN DEFICIENCY P
Iron metabolism disorders v1.30 SEC23B Sarah Leigh Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134
Iron metabolism disorders v1.29 ACVR1 Sarah Leigh Added comment: Comment on phenotypes: This phenotype does not appear to be relevant to this panel.
Iron metabolism disorders v1.29 ACVR1 Sarah Leigh Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100
Iron metabolism disorders v1.28 STEAP3 Sarah Leigh Phenotypes for gene: STEAP3 were changed from 615234 ?Anemia, hypochromic microcytic, with iron overload 2 to ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234; severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094
Iron metabolism disorders v1.27 HEPH Sarah Leigh Publications for gene: HEPH were set to
Iron metabolism disorders v1.26 FTH1 Sarah Leigh Phenotypes for gene: FTH1 were changed from 615517 ?Hemochromatosis, type 5; HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 to ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225
Iron metabolism disorders v1.25 FECH Sarah Leigh Phenotypes for gene: FECH were changed from EPP1; 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 to Protoporphyria, erythropoietic, 1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Iron metabolism disorders v1.24 TFR2 Sarah Leigh Phenotypes for gene: TFR2 were changed from 604250 HEMOCHROMATOSIS, TYPE 3; 604250 Hemochromatosis, type 3; HFE3 to Hemochromatosis, type 3 OMIM:604250; hemochromatosis type 3 MONDO:0011417
Iron metabolism disorders v1.23 TF Sarah Leigh Phenotypes for gene: TF were changed from 209300 Atransferrinemia, Hypoferritinaemia; 209300 Atransferrinemia to Atransferrinemia OMIM:209300; atransferrinemia MONDO:0008846
Iron metabolism disorders v1.22 SLC40A1 Sarah Leigh Phenotypes for gene: SLC40A1 were changed from HFE4; 606069 Hemochromatosis, type 4; 606069 HEMOCHROMATOSIS, TYPE 4 to Hemochromatosis, type 4 OMIM:606069; hemochromatosis type 4 MONDO:0011631
Iron metabolism disorders v1.21 SLC25A38 Sarah Leigh Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950; sideroblastic anemia 2 MONDO:0008785
Iron metabolism disorders v1.20 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100 to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100; microcytic anemia with liver iron overload MONDO:0008787
Iron metabolism disorders v1.19 SLC11A2 Sarah Leigh Phenotypes for gene: SLC11A2 were changed from 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100
Iron metabolism disorders v1.18 HFE2 Sarah Leigh Phenotypes for gene: HFE2 were changed from HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A to Hemochromatosis, type 2A OMIM:602390
Iron metabolism disorders v1.17 HAMP Sarah Leigh Phenotypes for gene: HAMP were changed from 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B to Hemochromatosis, type 2B OMIM:613313
Iron metabolism disorders v1.16 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin to Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
Iron metabolism disorders v1.15 GBA Sarah Leigh Phenotypes for gene: GBA were changed from 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I to Gaucher disease, type II OMIM:230900; Gaucher disease, type IIIC OMIM:231005; Gaucher disease, type III OMIM:231000; Gaucher disease, type I OMIM:230800
Iron metabolism disorders v1.14 FTL Sarah Leigh edited their review of gene: FTL: Added comment: The MOI for FTL should be "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to detect biallielic variants found in L-ferritin deficiency, dominant and recessive OMIM:615604.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Iron metabolism disorders v1.14 FTL Sarah Leigh Tag Q2_21_MOI tag was added to gene: FTL.
Iron metabolism disorders v1.14 FTL Sarah Leigh Phenotypes for gene: FTL were changed from Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders v1.13 FTL Sarah Leigh Deleted their comment
Iron metabolism disorders v1.13 FTL Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159
Iron metabolism disorders v1.12 FTL Sarah Leigh Added comment: Comment on phenotypes: L-ferritin deficiency, dominant and recessive OMIM:615604;Hyperferritinemia-cataract syndrome OMIM:600886;Neurodegeneration with brain iron accumulation 3 OMIM:606159
Iron metabolism disorders v1.12 FTL Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
Iron metabolism disorders v1.11 CYBRD1 Sarah Leigh Added comment: Comment on phenotypes: There is no OMIM, MONDO or ORPHANET disease association to this gene. The term hereditary hemochromatosis MONDO:0006507 was chosen as it represent the general disease described in the limited literature associated with this gene.
Iron metabolism disorders v1.11 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from hereditary hemochromatosis MONDO:0006507 to hereditary hemochromatosis MONDO:0006507
Iron metabolism disorders v1.10 CYBRD1 Sarah Leigh Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload; Iron overload to hereditary hemochromatosis MONDO:0006507
Diabetes - neonatal onset v2.5 BSCL2 Ivone Leong Phenotypes for gene: BSCL2 were changed from Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, 269700 to Congenital generalised lipodystrophy, severe insulin resistance and diabetes; Neonatal diabetes and generalised lipodystrophy; Lipodystrophy, congenital generalized, type 2, OMIM:269700
Diabetes - neonatal onset v2.4 ABCC8 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Diabetes - neonatal onset v2.4 ABCC8 Ivone Leong Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Diabetes mellitus, transient neonatal 2, OMIM:610374; Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
Iron metabolism disorders v1.9 CP Sarah Leigh Phenotypes for gene: CP were changed from 604290 Hemosiderosis, systemic, due to aceruloplasminemia; 604290 ACERULOPLASMINEMIA to aceruloplasminemia MONDO:0011426; Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290
Iron metabolism disorders v1.8 BMP6 Sarah Leigh Phenotypes for gene: BMP6 were changed from NA IRON OVERLOAD; 112266 Mild to moderate iron overload; Iron overload to Hemochromatosis type 5 ORPHA:447792
Primary pigmented nodular adrenocortical disease v1.7 PRKAR1A Ivone Leong Phenotypes for gene: PRKAR1A were changed from Pigmented nodular adrenocortical disease, primary, 1, 610489 to Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489
Primary pigmented nodular adrenocortical disease v1.6 PDE8B Ivone Leong Phenotypes for gene: PDE8B were changed from Pigmented nodular adrenocortical disease, primary, 3, 614190 to Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190
Primary pigmented nodular adrenocortical disease v1.5 PDE11A Ivone Leong Phenotypes for gene: PDE11A were changed from Pigmented nodular adrenocortical disease, primary, 2, 610475 to Pigmented nodular adrenocortical disease, primary, 2, OMIM:610475
Primary pigmented nodular adrenocortical disease v1.4 ARMC5 Ivone Leong Phenotypes for gene: ARMC5 were changed from ACTH-independent macronodular adrenal hyperplasia 2, 615954 to ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954
Familial tumoral calcinosis v1.7 KL Ivone Leong Phenotypes for gene: KL were changed from Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 to Tumoral calcinosis, hyperphosphatemic, familial, 3, OMIM:617994
Familial tumoral calcinosis v1.6 SAMD9 Ivone Leong Phenotypes for gene: SAMD9 were changed from Tumoral calcinosis, familial, normophosphatemic, 610455 to Tumoral calcinosis, familial, normophosphatemic, OMIM:610455
Familial tumoral calcinosis v1.5 GALNT3 Ivone Leong Phenotypes for gene: GALNT3 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Familial tumoral calcinosis v1.4 FGF23 Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 to Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993
Iron metabolism disorders v1.7 BMP6 Sarah Leigh Publications for gene: BMP6 were set to 26582087
Hypocalciuric hypercalcaemia v2.8 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740) to Hypocalciuric hypercalcemia, type III, OMIM:600740
Hypocalciuric hypercalcaemia v2.7 GNA11 Ivone Leong Phenotypes for gene: GNA11 were changed from Hypocalcemia, autosomal dominant 2 (615361); Hypocalciuric hypercalcemia, type II (145981) to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981
Hypocalciuric hypercalcaemia v2.6 CASR Ivone Leong Phenotypes for gene: CASR were changed from Hypocalciuric hypercalcemia, type I (145980) to Hypocalciuric hypercalcemia, type I, OMIM:145980
Hypocalciuric hypercalcaemia v2.5 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from Hypocalciuric hypercalcemia, type III (600740); FHH to Hypocalciuric hypercalcemia, type III (600740)
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Ulnar-mammary syndrome 181450
Progressive cardiac conduction disease v1.37 TBX3 Ivone Leong Phenotypes for gene: TBX3 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.36 TBX3 Ivone Leong Publications for gene: TBX3 were set to
Progressive cardiac conduction disease v1.35 KCNK17 Ivone Leong Phenotypes for gene: KCNK17 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.34 KCNK17 Ivone Leong Publications for gene: KCNK17 were set to
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770
Progressive cardiac conduction disease v1.33 GJA5 Ivone Leong Phenotypes for gene: GJA5 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.32 GJA5 Ivone Leong Publications for gene: GJA5 were set to
Progressive cardiac conduction disease v1.31 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919
Progressive cardiac conduction disease v1.30 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.29 ANK2 Ivone Leong Publications for gene: ANK2 were set to
Progressive cardiac conduction disease v1.28 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Heart conduction disease, MONDO:0000992
Iron metabolism disorders v1.6 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin to Protoporphyria, erythropoietic, X-linked OMIM:300752; Anemia, sideroblastic, 1 OMIM:300751; X-linked erythropoietic protoporphyria MONDO:0010420; X-linked sideroblastic anemia 1 MONDO:0020721
Progressive cardiac conduction disease v1.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559 to Progressive familial heart block, type IB, OMIM:604559
Progressive cardiac conduction disease v1.26 TRPM4 Ivone Leong Publications for gene: TRPM4 were set to 19726882; 20562447; 21887725; 29748318; 30021168
Progressive cardiac conduction disease v1.25 TBX5 Ivone Leong Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome 142900 to Holt-Oram syndrome, OMIM:142900
Progressive cardiac conduction disease v1.24 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838
Progressive cardiac conduction disease v1.23 CLCA2 Ivone Leong Phenotypes for gene: CLCA2 were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.22 TTR Ivone Leong Phenotypes for gene: TTR were changed from to Heart conduction disease, MONDO:0000992
Progressive cardiac conduction disease v1.21 TNNI3K Ivone Leong Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117
Progressive cardiac conduction disease v1.20 TNNI3K Ivone Leong Publications for gene: TNNI3K were set to 24925317; 25791106; 29355681
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVE
Progressive cardiac conduction disease v1.19 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE; Lenegre-Lev disease; Heart block, progressive, type IA; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PROGRESSIVE FAMILIAL HEART BLOCK (113900) to Heart block, progressive, OMIM:113900; Heart block, progressive, type IA, OMIM:113900
Progressive cardiac conduction disease v1.18 SCN5A Ivone Leong Publications for gene: SCN5A were set to
Progressive cardiac conduction disease v1.17 PRKAG2 Ivone Leong Phenotypes for gene: PRKAG2 were changed from Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects to Wolff-Parkinson-White syndrome, OMIM:194200
Progressive cardiac conduction disease v1.16 PRKAG2 Ivone Leong Publications for gene: PRKAG2 were set to
Progressive cardiac conduction disease v1.15 NKX2-5 Ivone Leong Phenotypes for gene: NKX2-5 were changed from Atrial septal defect 7, with or without AV conduction defects 108900 to Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Progressive cardiac conduction disease v1.14 DES Ivone Leong Publications for gene: DES were set to
Progressive cardiac conduction disease v1.13 LMNA Ivone Leong Publications for gene: LMNA were set to
Progressive cardiac conduction disease v1.12 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from Laminopathy-associated AV conduction block to Laminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Brugada syndrome 8 613123
Progressive cardiac conduction disease v1.11 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Brugada syndrome 8 613123; Sick sinus syndrome 2 163800 to Sick sinus syndrome 2, OMIM:163800
Progressive cardiac conduction disease v1.10 GLA Ivone Leong Phenotypes for gene: GLA were changed from Fabry disease, cardiac variant, 301500 to Fabry disease, cardiac variant, OMIM:301500
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.9 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 to Heart conduction disease, MONDO:0000992
Mitochondrial disorders v2.20 APOO Arina Puzriakova gene: APOO was added
gene: APOO was added to Mitochondrial disorders. Sources: Literature
Skewed X-inactivation tags were added to gene: APOO.
Mode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to RED
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Progressive cardiac conduction disease v1.8 EMD Ivone Leong Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Progressive cardiac conduction disease v1.7 DES Ivone Leong Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Glycogen storage disease v1.6 RBCK1 Sarah Leigh Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 to Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895; polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Glycogen storage disease v1.5 RBCK1 Sarah Leigh edited their review of gene: RBCK1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in at least 6 unrelated cases.; Changed rating: GREEN
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Tag Q2_21_rating tag was added to gene: RBCK1.
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Classified gene: RBCK1 as Amber List (moderate evidence)
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Glycogen storage disease v1.5 RBCK1 Sarah Leigh Gene: rbck1 has been classified as Amber List (Moderate Evidence).
Familial hypercholesterolaemia - targeted panel v1.8 PCSK9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with {Low density lipoprotein cholesterol level QTL 1}, 603776
Familial hypercholesterolaemia - targeted panel v1.8 PCSK9 Ivone Leong Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3, 603776; Familial Hypercholesterolaemia; Hypercholesterolemia; {Low density lipoprotein cholesterol level QTL 1}, 603776; Familial Hypercholesterolemia to Hypercholesterolemia, familial, 3, OMIM:603776
Familial hypercholesterolaemia - targeted panel v1.7 LDLRAP1 Ivone Leong Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, 4, OMIM:603813
Familial hypercholesterolaemia - targeted panel v1.6 LDLR Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with LDL cholesterol level QTL2, 143890
Familial hypercholesterolaemia - targeted panel v1.6 LDLR Ivone Leong Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial to Hypercholesterolemia, familial, 1, OMIM:143890
Familial hypercholesterolaemia - targeted panel v1.5 APOE Ivone Leong Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347 to Hyperlipoproteinemia, type III, OMIM:617347
Familial hypercholesterolaemia - targeted panel v1.4 APOB Ivone Leong Phenotypes for gene: APOB were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia, familial, 2, 144010; Hypercholesterolemia to Hypercholesterolemia, familial, 2, OMIM:144010
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Short QT syndrome 3, OMIM:609622, Short QT syndrome type 3, MONDO:0012314, Atrial fibrillation, familial, 9, OMIM:613980, Atrial fibrillation, familial, 9, MONDO:0013513, Andersen syndrome, OMIM:170390, Andersen-Tawil syndrome, MONDO:0008222
Catecholaminergic polymorphic VT v2.18 KCNJ2 Ivone Leong Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.17 KCNE1 Ivone Leong Phenotypes for gene: KCNE1 were changed from Catecholaminergic polymorphic ventricular tachycardia; Long QT syndrome to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.16 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from catecholaminergic polymorphic ventricular tachycardia to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.15 TECRL Ivone Leong Phenotypes for gene: TECRL were changed from Ventricular tachycardia, catecholaminergic polymorphic, 3 614021 to Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021
Catecholaminergic polymorphic VT v2.14 TRDN Ivone Leong Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441); catecholaminergic polymorphic ventricular tachycardia; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 2 (600996)
Catecholaminergic polymorphic VT v2.13 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 1; Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772); Arrhythmogenic right ventricular dysplasia 2 (600996); Catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
Catecholaminergic polymorphic VT v2.12 CASQ2 Ivone Leong Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938); Ventricular tachycardia, catecholaminergic polymorphic, 2 to Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 16,618782
Catecholaminergic polymorphic VT v2.11 CALM3 Ivone Leong Phenotypes for gene: CALM3 were changed from ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782 to ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 15, 616249
Catecholaminergic polymorphic VT v2.10 CALM2 Ivone Leong Phenotypes for gene: CALM2 were changed from Long QT syndrome 15, 616249 to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Catecholaminergic polymorphic VT v2.9 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) to Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 14 (616247)
Catecholaminergic polymorphic VT v2.8 CALM1 Ivone Leong Phenotypes for gene: CALM1 were changed from Long QT syndrome 14 (616247); Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916); catecholaminergic polymorphic ventricular tachycardia to Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Brugada syndrome v2.33 KCNJ8 Ivone Leong Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.32 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119) to ?Brugada syndrome 6, OMIM:613119
Brugada syndrome v2.31 CAV3 Ivone Leong Phenotypes for gene: CAV3 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.30 CACNA2D1 Ivone Leong Phenotypes for gene: CACNA2D1 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.29 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.28 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.27 TRPM4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Progressive familial heart block, type IB 604559
Brugada syndrome v2.27 TRPM4 Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559; Progressive familial heart block, type IB (604559) to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.26 SLMAP Ivone Leong Phenotypes for gene: SLMAP were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.25 SCN3B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 16 (613120)
Brugada syndrome v2.25 SCN3B Ivone Leong Phenotypes for gene: SCN3B were changed from Brugada syndrome 7; Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) to Brugada syndrome 7, OMIM:613120
Brugada syndrome v2.24 SCN2B Ivone Leong Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.23 SCN1B Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac conduction defect, nonspecific (612838), Atrial fibrillation, familial, 13 (615377), Epileptic encephalopathy, early infantile, 52 (617350), Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Brugada syndrome v2.23 SCN1B Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5; Brugada syndrome 5 (612838); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) to Brugada syndrome 5, OMIM:612838
Brugada syndrome v2.22 SCN10A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Episodic pain syndrome, familial, 2 (615551)
Brugada syndrome v2.22 SCN10A Ivone Leong Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 (615551) to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.21 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.20 RANGRF Ivone Leong Phenotypes for gene: RANGRF were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome, MONDO:0015263
Brugada syndrome v2.19 PKP2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 9 (609040), Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy
Brugada syndrome v2.19 PKP2 Ivone Leong Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (609040); Brugada syndrome; Arrhythmogenic right ventricular cardiomyopathy ; Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.18 KCNE5 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with atrial fibrillation
Brugada syndrome v2.18 KCNE5 Ivone Leong Phenotypes for gene: KCNE5 were changed from atrial fibrillation; Brugada syndrome to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.17 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119); Brugada syndrome 6 to ?Brugada syndrome 6 (613119)
Brugada syndrome v2.16 KCND3 Ivone Leong Phenotypes for gene: KCND3 were changed from Brugada/Brugada like syndrome to Brugada syndrome 9, OMIM:616399
Brugada syndrome v2.15 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777) to Brugada syndrome 2, OMIM:611777
Brugada syndrome v2.14 HCN4 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Sick sinus syndrome 2 (163800)
Brugada syndrome v2.14 HCN4 Ivone Leong Phenotypes for gene: HCN4 were changed from Sick sinus syndrome 2 (163800); Brugada syndrome 8; Brugada syndrome 8 (613123) to Brugada syndrome 8, OMIM:613123
Brugada syndrome v2.13 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777); Brugada syndrome 2 to Brugada syndrome 2 (611777)
Brugada syndrome v2.12 DLG1 Ivone Leong Phenotypes for gene: DLG1 were changed from to Brugada syndrome, MONDO:0015263
Brugada syndrome v2.11 CACNB2 Ivone Leong Phenotypes for gene: CACNB2 were changed from Brugada syndrome 4; Brugada syndrome 4 (611876) to Brugada syndrome 4 (611876)
Brugada syndrome v2.10 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 to Brugada syndrome 3, MONDO:0012742
Brugada syndrome v2.9 ANK2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919)
Brugada syndrome v2.9 ANK2 Ivone Leong Phenotypes for gene: ANK2 were changed from Long QT syndrome 4 (600919); Cardiac arrhythmia, ankyrin-B-related (600919); Brugada/Brugada like syndrome to Brugada/Brugada like syndrome
Brugada syndrome v2.8 ABCC9 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiomyopathy, dilated, 1O (608569), Atrial fibrillation, familial, 12 (614050) and Dilated cardiomyopathy
Brugada syndrome v2.8 ABCC9 Ivone Leong Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O (608569); Brugada syndrome; Atrial fibrillation, familial, 12 (614050); Dilated cardiomyopathy to Brugada syndrome, MONDO:0015263
Intellectual disability v3.970 SETD1B Arina Puzriakova Publications for gene: SETD1B were set to 29322246; 27106595; 25428890; 31110234
Intellectual disability v3.969 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Severe Paediatric Disorders v1.65 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Genetic epilepsy syndromes v2.305 SETD1B Arina Puzriakova Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559
Genetic epilepsy syndromes v2.304 SETD1B Arina Puzriakova Publications for gene: SETD1B were set to 20648245; 27106595; 25428890; 22369279; 29322246; 31440728; 31685013
Rare anaemia v1.18 C15orf41 Arina Puzriakova Publications for gene: C15orf41 were set to 23716552; 29031773; 29885034
Cytopenias and congenital anaemias v1.83 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Severe Paediatric Disorders v1.64 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Rare anaemia v1.17 C15orf41 Arina Puzriakova Phenotypes for gene: C15orf41 were changed from Dyserythropoietic anemia, congenital, type Ib; 615631 Congenital dyserythropoietic anaemia type 1b; 615631 Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631 to Dyserythropoietic anemia, congenital, type Ib, OMIM:615631; Congenital dyserythropoietic anemia type type 1B, MONDO:0014285
Severe Paediatric Disorders v1.63 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia, 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Rare anaemia v1.16 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 16098079; 12434312
Rare anaemia v1.15 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Congenital dyserythropoietic anaemia type 1a to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Iron metabolism disorders v1.5 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Cytopenias and congenital anaemias v1.82 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to 12434312
Cytopenias and congenital anaemias v1.81 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anemia, congenital, type Ia 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.630 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type I 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.629 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to
Fetal anomalies v1.628 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30786798, 29668551, 29599085; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, OMIM:224120, Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Classified gene: CDAN1 as Green List (high evidence)
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Added comment: Comment on list classification: Fetal-onset congenital dyserythropoietic anemia type 1 due to biallelic CDAN1 variants can present in utero with hydrops fetalis. Sufficient cases to ascertain causation.
Fetal hydrops v1.25 CDAN1 Arina Puzriakova Gene: cdan1 has been classified as Green List (High Evidence).
Fetal hydrops v1.24 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Genomic imprinting v0.94 TBX5 Sarah Leigh Added comment: Comment on mode of inheritance: There would appear to be no evidence that this gene is imprinted.
Genomic imprinting v0.94 TBX5 Sarah Leigh Mode of inheritance for gene: TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Brugada syndrome v2.7 KCNH2 Ivone Leong Added comment: Comment on phenotypes: KCNH2 is also associated with Long QT syndrome 2, OMIM:613688 and Short QT syndrome 1, OMIM:609620
Brugada syndrome v2.7 KCNH2 Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 to Brugada/Brugada like syndrome
Brugada syndrome v2.6 SCN5A Ivone Leong Phenotypes for gene: SCN5A were changed from Brugada syndrome 1, 601144; MONDO_0015263 to Brugada syndrome 1, 601144; Brugada syndrome 1, MONDO:0011001
Lipoprotein lipase deficiency v1.4 APOB Julie Evans commented on gene: APOB
Optic neuropathy v2.38 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from Optic atrophy 9; 616289; optic atrophy, nystagmus; Infantile cerebellar-retinal degeneration to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802; ?Optic atrophy 9, OMIM:616289; Optic atrophy 9, MONDO:0014571
Intellectual disability v3.968 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Ataxia and cerebellar anomalies - narrow panel v2.54 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, MIM#614559 to Infantile cerebellar-retinal degeneration, OMIM:614559; Infantile cerebellar-retinal degeneration, MONDO:0013802
Ataxia and cerebellar anomalies - narrow panel v2.53 ACO2 Arina Puzriakova Publications for gene: ACO2 were set to 32519519
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: ACO2.
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Classified gene: ACO2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene should be promoted to Green at the next GMS panel update.

Sufficient unrelated cases to ascertain causation (see publications list). Childhood-onset ataxia often reported as a core feature of the disease presentation, particularly in milder cases. Both episodic and classic forms have been described.
Ataxia and cerebellar anomalies - narrow panel v2.52 ACO2 Arina Puzriakova Gene: aco2 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.32 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190
Disorders of sex development v2.31 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190; 2238701
Disorders of sex development v2.30 FGFR2 Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190
Ataxia and cerebellar anomalies - narrow panel v2.51 THG1L Arina Puzriakova Tag watchlist tag was added to gene: THG1L.
Ataxia and cerebellar anomalies - narrow panel v2.51 THG1L Arina Puzriakova Phenotypes for gene: THG1L were changed from Cerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Spinocerebellar ataxia, autosomal recessive 28, MONDO:0032923
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Classified gene: THG1L as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Added comment: Comment on list classification: Ataxia only reported in 3 Ashkenazi Jewish families with the same p.V55A founder variant. Unclear whether the fourth case with a different variant (p.L294P) displayed ataxia. Therefore, additional cases or functional analysis of the p.V55A variant are required prior to upgrading this gene to Green.
Ataxia and cerebellar anomalies - narrow panel v2.50 THG1L Arina Puzriakova Gene: thg1l has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.49 THG1L Arina Puzriakova reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 27307223, 31168944, 30214071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v2.29 FGFR2 Ivone Leong Phenotypes for gene: FGFR2 were changed from LADD syndrome 149730; Bent bone dysplasia syndrome 614592 to LADD syndrome, OMIM:149730; Bent bone dysplasia syndrome, OMIM:614592
Disorders of sex development v2.28 GATA4 Ivone Leong Tag Q2_21_rating tag was added to gene: GATA4.
Disorders of sex development v2.28 GATA4 Ivone Leong Classified gene: GATA4 as Amber List (moderate evidence)
Disorders of sex development v2.28 GATA4 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Disorders of sex development v2.28 GATA4 Ivone Leong Gene: gata4 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.27 GATA4 Ivone Leong Publications for gene: GATA4 were set to 21220346
Disorders of sex development v2.26 GATA4 Ivone Leong Phenotypes for gene: GATA4 were changed from ?Testicular anomalies with or without congenital heart disease 615542 to ?Testicular anomalies with or without congenital heart disease, OMIM:615542
Disorders of sex development v2.25 HOXA13 Ivone Leong Classified gene: HOXA13 as Amber List (moderate evidence)
Disorders of sex development v2.25 HOXA13 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Disorders of sex development v2.25 HOXA13 Ivone Leong Gene: hoxa13 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.24 HOXA13 Ivone Leong Tag Q2_21_rating tag was added to gene: HOXA13.
Disorders of sex development v2.24 HOXA13 Ivone Leong Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, OMIM:140000
Disorders of sex development v2.23 PAX8 Ivone Leong Classified gene: PAX8 as Amber List (moderate evidence)
Disorders of sex development v2.23 PAX8 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene has been given an Amber rating as more evidence is required to support a gene-disease association.
Disorders of sex development v2.23 PAX8 Ivone Leong Gene: pax8 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.22 PAX8 Ivone Leong Tag watchlist tag was added to gene: PAX8.
Disorders of sex development v2.22 PAX8 Ivone Leong Added comment: Comment on publications: PMID: 25484916 describes a case of a patient with MRKH and hypothyroidism with a de novo deletion of 2q13-14.2 region (includes PAX8).

PMID: 31731040 describes a second case of a patient with MRKH and congenital thyroid gland hypoplasia with a de novo interstitial 2q12.1q14.1 deletion (the region includes PAX8).

In both PMID: 25484916 and 31731040, the authors theorise that PAX8 may be responsible.
Disorders of sex development v2.22 PAX8 Ivone Leong Publications for gene: PAX8 were set to 33434492
Disorders of sex development v2.21 PAX8 Ivone Leong Phenotypes for gene: PAX8 were changed from Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), MONDO:0017771
Disorders of sex development v2.20 PBX1 Ivone Leong Phenotypes for gene: PBX1 were changed from 46, XY gonadal dysgenesis to 46, XY gonadal dysgenesis; 46,XY partial gonadal dysgenesis, MONDO:0016674
Disorders of sex development v2.19 PBX1 Ivone Leong Tag watchlist tag was added to gene: PBX1.
Disorders of sex development v2.19 PBX1 Ivone Leong Classified gene: PBX1 as Amber List (moderate evidence)
Disorders of sex development v2.19 PBX1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there is currently not enough evidence to support a gene-disease association, this gene has been given an Amber rating.
Disorders of sex development v2.19 PBX1 Ivone Leong Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including progressive cerebellar ataxia (PMID: 31855247)
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence)
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update - at least 3 unrelated families reported with distinct SLC44A1 variants and this neurodegenerative disorder, including optic nerve atrophy (PMID: 31855247).
Optic neuropathy v2.37 SLC44A1 Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v2.36 SLC44A1 Arina Puzriakova gene: SLC44A1 was added
gene: SLC44A1 was added to Optic neuropathy. Sources: Literature
Q2_21_rating tags were added to gene: SLC44A1.
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868; Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
Review for gene: SLC44A1 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM (MIM# 618868), but not yet in Gene2Phenotype.

- PMID: 31855247 (2020) - Four individuals from three families with different homozygous frameshift variants (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in SLC44A1. Clinical features in all affected individuals included progressive ataxia, tremor, cognitive decline, bilateral optic nerve atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrated cerebellar atrophy and leukoencephalopathy. Functional studies indicate choline transporter deficiency as the underlying pathological mechanism.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Classified gene: SLC44A1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update.
Ataxia and cerebellar anomalies - narrow panel v2.49 SLC44A1 Arina Puzriakova Gene: slc44a1 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.48 SLC44A1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC44A1.
Ataxia and cerebellar anomalies - narrow panel v2.48 SLC44A1 Arina Puzriakova reviewed gene: SLC44A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31855247; Phenotypes: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v2.18 NR2F2 Ivone Leong Tag Q2_21_rating tag was added to gene: NR2F2.
Disorders of sex development v2.18 NR2F2 Ivone Leong Classified gene: NR2F2 as Amber List (moderate evidence)
Disorders of sex development v2.18 NR2F2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be Green at the next review.
Disorders of sex development v2.18 NR2F2 Ivone Leong Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.17 NR2F2 Ivone Leong Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46,XX sex reversal 5, OMIM:618901; 46,XX sex reversal 5, MONDO:0030049
Primary immunodeficiency v2.402 RHOG Arina Puzriakova Classified gene: RHOG as Red List (low evidence)
Primary immunodeficiency v2.402 RHOG Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case reported at present (PMID: 33513601). Relevant phenotype and some supportive functional data included.
Primary immunodeficiency v2.402 RHOG Arina Puzriakova Gene: rhog has been classified as Red List (Low Evidence).
Limb disorders v2.38 KCNN3 Arina Puzriakova Classified gene: KCNN3 as Amber List (moderate evidence)
Limb disorders v2.38 KCNN3 Arina Puzriakova Added comment: Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update - sufficient unrelated cases to establish causation. Mild end of the radial ray spectrum from reports to date, however included.
Limb disorders v2.38 KCNN3 Arina Puzriakova Gene: kcnn3 has been classified as Amber List (Moderate Evidence).
Limb disorders v2.37 KCNN3 Arina Puzriakova gene: KCNN3 was added
gene: KCNN3 was added to Limb disorders. Sources: Literature
Q2_21_rating tags were added to gene: KCNN3.
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to 31155282; 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658; Zimmermann-laband syndrome 3, MONDO:0032854
Mode of pathogenicity for gene: KCNN3 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: KCNN3 was set to GREEN
Added comment: Associated with 'Zimmermann-Laband syndrome' in OMIM (MIM# 618658) and Gene2Phenotype ('probable' disease confidence rating).

At least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia and hypertrichosis. Radial ray defects mostly within the milder end of the spectrum but do include hypoplasia of the terminal phalanges and aplasia/hypoplasia of nails on hands and feet.
Sources: Literature
Intellectual disability v3.967 KCNN3 Arina Puzriakova Publications for gene: KCNN3 were set to 31155282
Intellectual disability v3.966 KCNN3 Arina Puzriakova edited their review of gene: KCNN3: Added comment: Now at least 6 unrelated individuals with different gain-of-function KCNN3 variants (PMIDs: 31155282 and 33594261). Phenotypes include mild-to-moderate DD and/or ID.; Changed publications: 31155282, 33594261
Neurodegenerative disorders - adult onset v2.39 ISCA-37478-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37478-Loss.
Neurodegenerative disorders - adult onset v2.39 ISCA-37478-Gain Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37478-Gain.
Neurodegenerative disorders - adult onset v2.39 ISCA-37468-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37468-Loss.
Neurodegenerative disorders - adult onset v2.39 ISCA-37404-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37404-Loss.
Monogenic diabetes v2.4 ISCA-37432-Loss Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37432-Loss.
Intellectual disability v3.966 PPP2R2B_CAG Arina Puzriakova Tag curated_removed tag was added to STR: PPP2R2B_CAG.
Intellectual disability v3.966 CSTB_CCCCGCCCCGCG Arina Puzriakova Tag curated_removed tag was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability v3.966 C9orf72_GGGGCC Arina Puzriakova Tag curated_removed tag was added to STR: C9orf72_GGGGCC.
Intellectual disability v3.966 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Undiagnosed metabolic disorders v1.447 ATXN7_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN7_CAG.
Intellectual disability v3.966 ATXN3_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN3_CAG.
Intellectual disability v3.966 ATXN1_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN1_CAG.
Intellectual disability v3.966 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy - teen and adult v2.16 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hereditary neuropathy v1.383 NOP56_GGCCTGTT Arina Puzriakova Tag STR tag was added to STR: NOP56_GGCCTGTT.
Tag curated_removed tag was added to STR: NOP56_GGCCTGTT.
Hereditary ataxia v1.211 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Primary ovarian insufficiency v1.19 FMR1_CGG Arina Puzriakova Tag curated_removed tag was added to STR: FMR1_CGG.
Intellectual disability v3.966 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Skeletal dysplasia v2.83 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Thoracic dystrophies v1.12 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Early onset dystonia v1.86 ATXN10_ATTCT Arina Puzriakova Tag curated_removed tag was added to STR: ATXN10_ATTCT.
Intellectual disability v3.966 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.29 ATXN2_CAG Arina Puzriakova Tag curated_removed tag was added to STR: ATXN2_CAG.
Adult onset movement disorder v1.20 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary ataxia - adult onset v2.25 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Neurodegenerative disorders - adult onset v2.39 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary spastic paraplegia - adult onset v1.16 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Hereditary spastic paraplegia - childhood onset v2.28 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Structural basal ganglia disorders v1.18 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Ataxia and cerebellar anomalies - narrow panel v2.48 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Brain channelopathy v1.59 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Sudden death in young people v1.15 TMPO Arina Puzriakova Tag curated_removed tag was added to gene: TMPO.
Sudden death in young people v1.15 SLC25A4 Arina Puzriakova Tag curated_removed tag was added to gene: SLC25A4.
Sudden death in young people v1.15 SCN4B Arina Puzriakova Tag curated_removed tag was added to gene: SCN4B.
Sudden death in young people v1.15 RYR2 Arina Puzriakova Tag curated_removed tag was added to gene: RYR2.
Sudden death in young people v1.15 NKX2-5 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-5.
Sudden death in young people v1.15 MYLK2 Arina Puzriakova Tag curated_removed tag was added to gene: MYLK2.
Sudden death in young people v1.15 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Sudden death in young people v1.15 MT-ND1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND1.
Sudden death in young people v1.15 MT-CYB Arina Puzriakova Tag curated_removed tag was added to gene: MT-CYB.
Sudden death in young people v1.15 IL6 Arina Puzriakova Tag curated_removed tag was added to gene: IL6.
Sudden death in young people v1.15 IL10 Arina Puzriakova Tag curated_removed tag was added to gene: IL10.
Sudden death in young people v1.15 FEV Arina Puzriakova Tag curated_removed tag was added to gene: FEV.
Sudden death in young people v1.15 CTNNA3 Arina Puzriakova Tag curated_removed tag was added to gene: CTNNA3.
Sudden death in young people v1.15 CAV3 Arina Puzriakova Tag curated_removed tag was added to gene: CAV3.
Sudden death in young people v1.15 AQP4 Arina Puzriakova Tag curated_removed tag was added to gene: AQP4.
Sudden death in young people v1.15 AKAP9 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP9.
Sudden death in young people v1.15 AKAP10 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP10.
Sudden death in young people v1.15 ACADM Arina Puzriakova Tag curated_removed tag was added to gene: ACADM.
Sudden death in young people v1.15 AARS2 Arina Puzriakova Tag curated_removed tag was added to gene: AARS2.
Rare multisystem ciliopathy disorders v1.139 ATD Arina Puzriakova Tag curated_removed tag was added to gene: ATD.
Primary ovarian insufficiency v1.19 BMPR1B-AS1 Arina Puzriakova Tag curated_removed tag was added to gene: BMPR1B-AS1.
Primary ciliary disorders v1.29 ATXN10 Arina Puzriakova Tag curated_removed tag was added to gene: ATXN10.
Parkinson Disease and Complex Parkinsonism v1.69 EPHB4 Arina Puzriakova Tag curated_removed tag was added to gene: EPHB4.
Ocular coloboma v1.42 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Ocular and oculo-cutaneous albinism v1.21 OCA5 Arina Puzriakova Tag curated_removed tag was added to gene: OCA5.
Multi-organ autoimmune diabetes v1.8 ZFP57 Arina Puzriakova Tag curated_removed tag was added to gene: ZFP57.
Multi-organ autoimmune diabetes v1.8 WFS1 Arina Puzriakova Tag curated_removed tag was added to gene: WFS1.
Multi-organ autoimmune diabetes v1.8 SLC2A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC2A2.
Multi-organ autoimmune diabetes v1.8 SLC19A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC19A2.
Multi-organ autoimmune diabetes v1.8 RFX6 Arina Puzriakova Tag curated_removed tag was added to gene: RFX6.
Multi-organ autoimmune diabetes v1.8 PTF1A Arina Puzriakova Tag curated_removed tag was added to gene: PTF1A.
Multi-organ autoimmune diabetes v1.8 PPARG Arina Puzriakova Tag curated_removed tag was added to gene: PPARG.
Multi-organ autoimmune diabetes v1.8 PDX1 Arina Puzriakova Tag curated_removed tag was added to gene: PDX1.
Multi-organ autoimmune diabetes v1.8 PAX4 Arina Puzriakova Tag curated_removed tag was added to gene: PAX4.
Multi-organ autoimmune diabetes v1.8 NKX2-2 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-2.
Multi-organ autoimmune diabetes v1.8 NEUROG3 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROG3.
Multi-organ autoimmune diabetes v1.8 NEUROD1 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROD1.
Multi-organ autoimmune diabetes v1.8 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Multi-organ autoimmune diabetes v1.8 MNX1 Arina Puzriakova Tag curated_removed tag was added to gene: MNX1.
Multi-organ autoimmune diabetes v1.8 LMNA Arina Puzriakova Tag curated_removed tag was added to gene: LMNA.
Multi-organ autoimmune diabetes v1.8 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Multi-organ autoimmune diabetes v1.8 KLF11 Arina Puzriakova Tag curated_removed tag was added to gene: KLF11.
Multi-organ autoimmune diabetes v1.8 KCNJ11 Arina Puzriakova Tag curated_removed tag was added to gene: KCNJ11.
Multi-organ autoimmune diabetes v1.8 INSR Arina Puzriakova Tag curated_removed tag was added to gene: INSR.
Multi-organ autoimmune diabetes v1.8 INS Arina Puzriakova Tag curated_removed tag was added to gene: INS.
Multi-organ autoimmune diabetes v1.8 IER3IP1 Arina Puzriakova Tag curated_removed tag was added to gene: IER3IP1.
Multi-organ autoimmune diabetes v1.8 HNF4A Arina Puzriakova Tag curated_removed tag was added to gene: HNF4A.
Multi-organ autoimmune diabetes v1.8 HNF1B Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B.
Multi-organ autoimmune diabetes v1.8 HNF1A Arina Puzriakova Tag curated_removed tag was added to gene: HNF1A.
Multi-organ autoimmune diabetes v1.8 GLIS3 Arina Puzriakova Tag curated_removed tag was added to gene: GLIS3.
Multi-organ autoimmune diabetes v1.8 GCK Arina Puzriakova Tag curated_removed tag was added to gene: GCK.
Multi-organ autoimmune diabetes v1.8 GATA6 Arina Puzriakova Tag curated_removed tag was added to gene: GATA6.
Multi-organ autoimmune diabetes v1.8 GATA4 Arina Puzriakova Tag curated_removed tag was added to gene: GATA4.
Multi-organ autoimmune diabetes v1.8 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Multi-organ autoimmune diabetes v1.8 EIF2AK3 Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3.
Multi-organ autoimmune diabetes v1.8 CEL Arina Puzriakova Tag curated_removed tag was added to gene: CEL.
Multi-organ autoimmune diabetes v1.8 BLK Arina Puzriakova Tag curated_removed tag was added to gene: BLK.
Multi-organ autoimmune diabetes v1.8 AVPR2 Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
Multi-organ autoimmune diabetes v1.8 AVP Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
Multi-organ autoimmune diabetes v1.8 AQP2 Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
Multi-organ autoimmune diabetes v1.8 AKT2 Arina Puzriakova Tag curated_removed tag was added to gene: AKT2.
Multi-organ autoimmune diabetes v1.8 ABCC8 Arina Puzriakova Tag curated_removed tag was added to gene: ABCC8.
Hereditary spastic paraplegia v1.219 SPG41 Arina Puzriakova Tag curated_removed tag was added to gene: SPG41.
Hereditary spastic paraplegia v1.219 SPG38 Arina Puzriakova Tag curated_removed tag was added to gene: SPG38.
Hereditary spastic paraplegia v1.219 SPG37 Arina Puzriakova Tag curated_removed tag was added to gene: SPG37.
Hereditary spastic paraplegia v1.219 SPG36 Arina Puzriakova Tag curated_removed tag was added to gene: SPG36.
Hereditary spastic paraplegia v1.219 SPG34 Arina Puzriakova Tag curated_removed tag was added to gene: SPG34.
Hereditary spastic paraplegia v1.219 SPG32 Arina Puzriakova Tag curated_removed tag was added to gene: SPG32.
Hereditary spastic paraplegia v1.219 SPG29 Arina Puzriakova Tag curated_removed tag was added to gene: SPG29.
Hereditary spastic paraplegia v1.219 SPG27 Arina Puzriakova Tag curated_removed tag was added to gene: SPG27.
Hereditary spastic paraplegia v1.219 SPG25 Arina Puzriakova Tag curated_removed tag was added to gene: SPG25.
Hereditary spastic paraplegia v1.219 SPG24 Arina Puzriakova Tag curated_removed tag was added to gene: SPG24.
Hereditary spastic paraplegia v1.219 SPG23 Arina Puzriakova Tag curated_removed tag was added to gene: SPG23.
Hereditary spastic paraplegia v1.219 SPG19 Arina Puzriakova Tag curated_removed tag was added to gene: SPG19.
Hereditary spastic paraplegia v1.219 SPG16 Arina Puzriakova Tag curated_removed tag was added to gene: SPG16.
Hereditary spastic paraplegia v1.219 SPG14 Arina Puzriakova Tag curated_removed tag was added to gene: SPG14.
Genomic imprinting v0.93 TBX5 Arina Puzriakova Tag curated_removed tag was added to gene: TBX5.
Familial Neural Tube Defects v1.10 HPE1 Arina Puzriakova Tag curated_removed tag was added to gene: HPE1.
Familial diabetes v1.59 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Familial cicatricial alopecia v1.2 GJA1 Arina Puzriakova Tag curated_removed tag was added to gene: GJA1.
Familial cicatricial alopecia v1.2 FOXN1 Arina Puzriakova Tag curated_removed tag was added to gene: FOXN1.
Ductal plate malformation v1.16 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Ductal plate malformation v1.16 WDR34 Arina Puzriakova Tag curated_removed tag was added to gene: WDR34.
Ductal plate malformation v1.16 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Ductal plate malformation v1.16 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Ductal plate malformation v1.16 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Ductal plate malformation v1.16 TTC21B Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B.
Ductal plate malformation v1.16 TMEM237 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237.
Ductal plate malformation v1.16 TMEM231 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231.
Ductal plate malformation v1.16 TMEM216 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM216.
Ductal plate malformation v1.16 TMEM138 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM138.
Ductal plate malformation v1.16 TMEM107 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM107.
Ductal plate malformation v1.16 TCTN3 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3.
Ductal plate malformation v1.16 TCTN2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2.
Ductal plate malformation v1.16 TCTN1 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN1.
Ductal plate malformation v1.16 TCTEX1D2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTEX1D2.
Ductal plate malformation v1.16 SDCCAG8 Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8.
Ductal plate malformation v1.16 OFD1 Arina Puzriakova Tag curated_removed tag was added to gene: OFD1.
Ductal plate malformation v1.16 NPHP4 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP4.
Ductal plate malformation v1.16 NPHP3 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP3.
Ductal plate malformation v1.16 NPHP1 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP1.
Ductal plate malformation v1.16 NEK8 Arina Puzriakova Tag curated_removed tag was added to gene: NEK8.
Ductal plate malformation v1.16 NEK1 Arina Puzriakova Tag curated_removed tag was added to gene: NEK1.
Ductal plate malformation v1.16 MKS1 Arina Puzriakova Tag curated_removed tag was added to gene: MKS1.
Ductal plate malformation v1.16 MKKS Arina Puzriakova Tag curated_removed tag was added to gene: MKKS.
Ductal plate malformation v1.16 MAPKBP1 Arina Puzriakova Tag curated_removed tag was added to gene: MAPKBP1.
Ductal plate malformation v1.16 KIF7 Arina Puzriakova Tag curated_removed tag was added to gene: KIF7.
Ductal plate malformation v1.16 KIAA0586 Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586.
Ductal plate malformation v1.16 IQCB1 Arina Puzriakova Tag curated_removed tag was added to gene: IQCB1.
Ductal plate malformation v1.16 INVS Arina Puzriakova Tag curated_removed tag was added to gene: INVS.
Ductal plate malformation v1.16 INPP5E Arina Puzriakova Tag curated_removed tag was added to gene: INPP5E.
Ductal plate malformation v1.16 IFT80 Arina Puzriakova Tag curated_removed tag was added to gene: IFT80.
Ductal plate malformation v1.16 IFT52 Arina Puzriakova Tag curated_removed tag was added to gene: IFT52.
Ductal plate malformation v1.16 IFT172 Arina Puzriakova Tag curated_removed tag was added to gene: IFT172.
Ductal plate malformation v1.16 IFT140 Arina Puzriakova Tag curated_removed tag was added to gene: IFT140.
Ductal plate malformation v1.16 IFT122 Arina Puzriakova Tag curated_removed tag was added to gene: IFT122.
Ductal plate malformation v1.16 HYLS1 Arina Puzriakova Tag curated_removed tag was added to gene: HYLS1.
Ductal plate malformation v1.16 HNF1B Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B.
Ductal plate malformation v1.16 EVC2 Arina Puzriakova Tag curated_removed tag was added to gene: EVC2.
Ductal plate malformation v1.16 EVC Arina Puzriakova Tag curated_removed tag was added to gene: EVC.
Ductal plate malformation v1.16 DYNC2LI1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2LI1.
Ductal plate malformation v1.16 DYNC2H1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1.
Ductal plate malformation v1.16 DDX59 Arina Puzriakova Tag curated_removed tag was added to gene: DDX59.
Ductal plate malformation v1.16 CSPP1 Arina Puzriakova Tag curated_removed tag was added to gene: CSPP1.
Ductal plate malformation v1.16 CEP83 Arina Puzriakova Tag curated_removed tag was added to gene: CEP83.
Ductal plate malformation v1.16 CEP41 Arina Puzriakova Tag curated_removed tag was added to gene: CEP41.
Ductal plate malformation v1.16 CEP290 Arina Puzriakova Tag curated_removed tag was added to gene: CEP290.
Ductal plate malformation v1.16 CEP164 Arina Puzriakova Tag curated_removed tag was added to gene: CEP164.
Ductal plate malformation v1.16 CEP120 Arina Puzriakova Tag curated_removed tag was added to gene: CEP120.
Ductal plate malformation v1.16 CEP104 Arina Puzriakova Tag curated_removed tag was added to gene: CEP104.
Ductal plate malformation v1.16 C5orf42 Arina Puzriakova Tag curated_removed tag was added to gene: C5orf42.
Ductal plate malformation v1.16 C2CD3 Arina Puzriakova Tag curated_removed tag was added to gene: C2CD3.
Ductal plate malformation v1.16 BBS9 Arina Puzriakova Tag curated_removed tag was added to gene: BBS9.
Ductal plate malformation v1.16 BBS7 Arina Puzriakova Tag curated_removed tag was added to gene: BBS7.
Ductal plate malformation v1.16 BBS5 Arina Puzriakova Tag curated_removed tag was added to gene: BBS5.
Ductal plate malformation v1.16 BBS4 Arina Puzriakova Tag curated_removed tag was added to gene: BBS4.
Ductal plate malformation v1.16 BBS2 Arina Puzriakova Tag curated_removed tag was added to gene: BBS2.
Ductal plate malformation v1.16 BBS12 Arina Puzriakova Tag curated_removed tag was added to gene: BBS12.
Ductal plate malformation v1.16 BBS10 Arina Puzriakova Tag curated_removed tag was added to gene: BBS10.
Ductal plate malformation v1.16 BBS1 Arina Puzriakova Tag curated_removed tag was added to gene: BBS1.
Ductal plate malformation v1.16 B9D2 Arina Puzriakova Tag curated_removed tag was added to gene: B9D2.
Ductal plate malformation v1.16 ARL6 Arina Puzriakova Tag curated_removed tag was added to gene: ARL6.
Ductal plate malformation v1.16 ARL13B Arina Puzriakova Tag curated_removed tag was added to gene: ARL13B.
Ductal plate malformation v1.16 ANKS6 Arina Puzriakova Tag curated_removed tag was added to gene: ANKS6.
Ductal plate malformation v1.16 ALMS1 Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1.
Ductal plate malformation v1.16 AHI1 Arina Puzriakova Tag curated_removed tag was added to gene: AHI1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 UGT1A1 Arina Puzriakova Tag curated_removed tag was added to gene: UGT1A1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 SPINK1 Arina Puzriakova Tag curated_removed tag was added to gene: SPINK1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 IL1RN Arina Puzriakova Tag curated_removed tag was added to gene: IL1RN.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AVPR2 Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AVP Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AQP2 Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 ACE Arina Puzriakova Tag curated_removed tag was added to gene: ACE.
Deafness and congenital structural abnormalities v1.17 DWS Arina Puzriakova Tag curated_removed tag was added to gene: DWS.
Childhood solid tumours cancer susceptibility v1.14 SH2B3 Arina Puzriakova Tag curated_removed tag was added to gene: SH2B3.
Additional findings health related v0.110 CFTR Arina Puzriakova Tag curated_removed tag was added to gene: CFTR.
Vascular skin disorders v1.4 GNAQ Arina Puzriakova Tag curated_removed tag was added to gene: GNAQ.
Vascular skin disorders v1.4 GNA11 Arina Puzriakova Tag curated_removed tag was added to gene: GNA11.
Structural eye disease v1.47 B3GALT1 Arina Puzriakova Tag curated_removed tag was added to gene: B3GALT1.
Skeletal dysplasia v2.83 ZIC1 Arina Puzriakova Tag curated_removed tag was added to gene: ZIC1.
Skeletal dysplasia v2.83 TWIST2 Arina Puzriakova Tag curated_removed tag was added to gene: TWIST2.
Skeletal dysplasia v2.83 TGFBR1 Arina Puzriakova Tag curated_removed tag was added to gene: TGFBR1.
Skeletal dysplasia v2.83 TCF12 Arina Puzriakova Tag curated_removed tag was added to gene: TCF12.
Skeletal dysplasia v2.83 KAT6A Arina Puzriakova Tag curated_removed tag was added to gene: KAT6A.
Skeletal dysplasia v2.83 IGF1R Arina Puzriakova Tag curated_removed tag was added to gene: IGF1R.
Skeletal dysplasia v2.83 EFNB1 Arina Puzriakova Tag curated_removed tag was added to gene: EFNB1.
Skeletal ciliopathies v1.10 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Skeletal ciliopathies v1.10 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Skeletal ciliopathies v1.10 TRIM32 Arina Puzriakova Tag curated_removed tag was added to gene: TRIM32.
Skeletal ciliopathies v1.10 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Skeletal ciliopathies v1.10 SDCCAG8 Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8.
Skeletal ciliopathies v1.10 SCLT1 Arina Puzriakova Tag curated_removed tag was added to gene: SCLT1.
Skeletal ciliopathies v1.10 MKS1 Arina Puzriakova Tag curated_removed tag was added to gene: MKS1.
Skeletal ciliopathies v1.10 MKKS Arina Puzriakova Tag curated_removed tag was added to gene: MKKS.
Skeletal ciliopathies v1.10 LZTFL1 Arina Puzriakova Tag curated_removed tag was added to gene: LZTFL1.
Skeletal ciliopathies v1.10 IFT74 Arina Puzriakova Tag curated_removed tag was added to gene: IFT74.
Skeletal ciliopathies v1.10 IFT27 Arina Puzriakova Tag curated_removed tag was added to gene: IFT27.
Skeletal ciliopathies v1.10 DDX59 Arina Puzriakova Tag curated_removed tag was added to gene: DDX59.
Skeletal ciliopathies v1.10 CENPF Arina Puzriakova Tag curated_removed tag was added to gene: CENPF.
Skeletal ciliopathies v1.10 CCDC28B Arina Puzriakova Tag curated_removed tag was added to gene: CCDC28B.
Skeletal ciliopathies v1.10 C8orf37 Arina Puzriakova Tag curated_removed tag was added to gene: C8orf37.
Skeletal ciliopathies v1.10 BBS9 Arina Puzriakova Tag curated_removed tag was added to gene: BBS9.
Skeletal ciliopathies v1.10 BBS7 Arina Puzriakova Tag curated_removed tag was added to gene: BBS7.
Skeletal ciliopathies v1.10 BBS5 Arina Puzriakova Tag curated_removed tag was added to gene: BBS5.
Skeletal ciliopathies v1.10 BBS4 Arina Puzriakova Tag curated_removed tag was added to gene: BBS4.
Skeletal ciliopathies v1.10 BBS2 Arina Puzriakova Tag curated_removed tag was added to gene: BBS2.
Skeletal ciliopathies v1.10 BBS12 Arina Puzriakova Tag curated_removed tag was added to gene: BBS12.
Skeletal ciliopathies v1.10 BBS10 Arina Puzriakova Tag curated_removed tag was added to gene: BBS10.
Skeletal ciliopathies v1.10 BBS1 Arina Puzriakova Tag curated_removed tag was added to gene: BBS1.
Skeletal ciliopathies v1.10 BBIP1 Arina Puzriakova Tag curated_removed tag was added to gene: BBIP1.
Skeletal ciliopathies v1.10 ARL6 Arina Puzriakova Tag curated_removed tag was added to gene: ARL6.
Retinal disorders v2.172 EVR3 Arina Puzriakova Tag curated_removed tag was added to gene: EVR3.
Osteogenesis imperfecta v2.13 WRN Arina Puzriakova Tag curated_removed tag was added to gene: WRN.
Osteogenesis imperfecta v2.13 WNT5A Arina Puzriakova Tag curated_removed tag was added to gene: WNT5A.
Osteogenesis imperfecta v2.13 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Osteogenesis imperfecta v2.13 TRPV4 Arina Puzriakova Tag curated_removed tag was added to gene: TRPV4.
Osteogenesis imperfecta v2.13 TRPS1 Arina Puzriakova Tag curated_removed tag was added to gene: TRPS1.
Osteogenesis imperfecta v2.13 TRIP11 Arina Puzriakova Tag curated_removed tag was added to gene: TRIP11.
Osteogenesis imperfecta v2.13 TRIM37 Arina Puzriakova Tag curated_removed tag was added to gene: TRIM37.
Osteogenesis imperfecta v2.13 THRB Arina Puzriakova Tag curated_removed tag was added to gene: THRB.
Osteogenesis imperfecta v2.13 TCTN3 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3.
Osteogenesis imperfecta v2.13 TBCE Arina Puzriakova Tag curated_removed tag was added to gene: TBCE.
Osteogenesis imperfecta v2.13 SULF1 Arina Puzriakova Tag curated_removed tag was added to gene: SULF1.
Osteogenesis imperfecta v2.13 STAT5B Arina Puzriakova Tag curated_removed tag was added to gene: STAT5B.
Osteogenesis imperfecta v2.13 SRCAP Arina Puzriakova Tag curated_removed tag was added to gene: SRCAP.
Osteogenesis imperfecta v2.13 SOX9 Arina Puzriakova Tag curated_removed tag was added to gene: SOX9.
Osteogenesis imperfecta v2.13 SOX3 Arina Puzriakova Tag curated_removed tag was added to gene: SOX3.
Osteogenesis imperfecta v2.13 SOX2 Arina Puzriakova Tag curated_removed tag was added to gene: SOX2.
Osteogenesis imperfecta v2.13 SOS1 Arina Puzriakova Tag curated_removed tag was added to gene: SOS1.
Osteogenesis imperfecta v2.13 SMC3 Arina Puzriakova Tag curated_removed tag was added to gene: SMC3.
Osteogenesis imperfecta v2.13 SMC1A Arina Puzriakova Tag curated_removed tag was added to gene: SMC1A.
Osteogenesis imperfecta v2.13 SMARCAL1 Arina Puzriakova Tag curated_removed tag was added to gene: SMARCAL1.
Osteogenesis imperfecta v2.13 SLC39A13 Arina Puzriakova Tag curated_removed tag was added to gene: SLC39A13.
Osteogenesis imperfecta v2.13 SLC35D1 Arina Puzriakova Tag curated_removed tag was added to gene: SLC35D1.
Osteogenesis imperfecta v2.13 SLC26A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC26A2.
Osteogenesis imperfecta v2.13 SHOX2 Arina Puzriakova Tag curated_removed tag was added to gene: SHOX2.
Osteogenesis imperfecta v2.13 SH3PXD2B Arina Puzriakova Tag curated_removed tag was added to gene: SH3PXD2B.
Osteogenesis imperfecta v2.13 RUNX2 Arina Puzriakova Tag curated_removed tag was added to gene: RUNX2.
Osteogenesis imperfecta v2.13 RPS6KA3 Arina Puzriakova Tag curated_removed tag was added to gene: RPS6KA3.
Osteogenesis imperfecta v2.13 ROR2 Arina Puzriakova Tag curated_removed tag was added to gene: ROR2.
Osteogenesis imperfecta v2.13 RAF1 Arina Puzriakova Tag curated_removed tag was added to gene: RAF1.
Osteogenesis imperfecta v2.13 PTPN11 Arina Puzriakova Tag curated_removed tag was added to gene: PTPN11.
Osteogenesis imperfecta v2.13 PTH1R Arina Puzriakova Tag curated_removed tag was added to gene: PTH1R.
Osteogenesis imperfecta v2.13 PROP1 Arina Puzriakova Tag curated_removed tag was added to gene: PROP1.
Osteogenesis imperfecta v2.13 PRKAR1A Arina Puzriakova Tag curated_removed tag was added to gene: PRKAR1A.
Osteogenesis imperfecta v2.13 POU1F1 Arina Puzriakova Tag curated_removed tag was added to gene: POU1F1.
Osteogenesis imperfecta v2.13 PITX2 Arina Puzriakova Tag curated_removed tag was added to gene: PITX2.
Osteogenesis imperfecta v2.13 PCNT Arina Puzriakova Tag curated_removed tag was added to gene: PCNT.
Osteogenesis imperfecta v2.13 PAPSS2 Arina Puzriakova Tag curated_removed tag was added to gene: PAPSS2.
Osteogenesis imperfecta v2.13 OBSL1 Arina Puzriakova Tag curated_removed tag was added to gene: OBSL1.
Osteogenesis imperfecta v2.13 NPR2 Arina Puzriakova Tag curated_removed tag was added to gene: NPR2.
Osteogenesis imperfecta v2.13 NKX3-2 Arina Puzriakova Tag curated_removed tag was added to gene: NKX3-2.
Osteogenesis imperfecta v2.13 NIPBL Arina Puzriakova Tag curated_removed tag was added to gene: NIPBL.
Osteogenesis imperfecta v2.13 NEK1 Arina Puzriakova Tag curated_removed tag was added to gene: NEK1.
Osteogenesis imperfecta v2.13 NBN Arina Puzriakova Tag curated_removed tag was added to gene: NBN.
Osteogenesis imperfecta v2.13 MMP9 Arina Puzriakova Tag curated_removed tag was added to gene: MMP9.
Osteogenesis imperfecta v2.13 MMP13 Arina Puzriakova Tag curated_removed tag was added to gene: MMP13.
Osteogenesis imperfecta v2.13 LIFR Arina Puzriakova Tag curated_removed tag was added to gene: LIFR.
Osteogenesis imperfecta v2.13 LHX3 Arina Puzriakova Tag curated_removed tag was added to gene: LHX3.
Osteogenesis imperfecta v2.13 KRAS Arina Puzriakova Tag curated_removed tag was added to gene: KRAS.
Osteogenesis imperfecta v2.13 KMT2D Arina Puzriakova Tag curated_removed tag was added to gene: KMT2D.
Osteogenesis imperfecta v2.13 KIF22 Arina Puzriakova Tag curated_removed tag was added to gene: KIF22.
Osteogenesis imperfecta v2.13 KDM6A Arina Puzriakova Tag curated_removed tag was added to gene: KDM6A.
Osteogenesis imperfecta v2.13 INSR Arina Puzriakova Tag curated_removed tag was added to gene: INSR.
Osteogenesis imperfecta v2.13 IHH Arina Puzriakova Tag curated_removed tag was added to gene: IHH.
Osteogenesis imperfecta v2.13 IGF1R Arina Puzriakova Tag curated_removed tag was added to gene: IGF1R.
Osteogenesis imperfecta v2.13 IGF1 Arina Puzriakova Tag curated_removed tag was added to gene: IGF1.
Osteogenesis imperfecta v2.13 IFT80 Arina Puzriakova Tag curated_removed tag was added to gene: IFT80.
Osteogenesis imperfecta v2.13 IFT140 Arina Puzriakova Tag curated_removed tag was added to gene: IFT140.
Osteogenesis imperfecta v2.13 IFT122 Arina Puzriakova Tag curated_removed tag was added to gene: IFT122.
Osteogenesis imperfecta v2.13 ICK Arina Puzriakova Tag curated_removed tag was added to gene: ICK.
Osteogenesis imperfecta v2.13 HSPG2 Arina Puzriakova Tag curated_removed tag was added to gene: HSPG2.
Osteogenesis imperfecta v2.13 HESX1 Arina Puzriakova Tag curated_removed tag was added to gene: HESX1.
Osteogenesis imperfecta v2.13 GPC6 Arina Puzriakova Tag curated_removed tag was added to gene: GPC6.
Osteogenesis imperfecta v2.13 GLI3 Arina Puzriakova Tag curated_removed tag was added to gene: GLI3.
Osteogenesis imperfecta v2.13 GLI2 Arina Puzriakova Tag curated_removed tag was added to gene: GLI2.
Osteogenesis imperfecta v2.13 GHSR Arina Puzriakova Tag curated_removed tag was added to gene: GHSR.
Osteogenesis imperfecta v2.13 GHRHR Arina Puzriakova Tag curated_removed tag was added to gene: GHRHR.
Osteogenesis imperfecta v2.13 GH1 Arina Puzriakova Tag curated_removed tag was added to gene: GH1.
Osteogenesis imperfecta v2.13 GDF5 Arina Puzriakova Tag curated_removed tag was added to gene: GDF5.
Osteogenesis imperfecta v2.13 FLNB Arina Puzriakova Tag curated_removed tag was added to gene: FLNB.
Osteogenesis imperfecta v2.13 FLNA Arina Puzriakova Tag curated_removed tag was added to gene: FLNA.
Osteogenesis imperfecta v2.13 FGFR3 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3.
Osteogenesis imperfecta v2.13 FGFR2 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR2.
Osteogenesis imperfecta v2.13 FGFR1 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR1.
Osteogenesis imperfecta v2.13 FGD1 Arina Puzriakova Tag curated_removed tag was added to gene: FGD1.
Osteogenesis imperfecta v2.13 FBN1 Arina Puzriakova Tag curated_removed tag was added to gene: FBN1.
Osteogenesis imperfecta v2.13 FAM20C Arina Puzriakova Tag curated_removed tag was added to gene: FAM20C.
Osteogenesis imperfecta v2.13 EXT2 Arina Puzriakova Tag curated_removed tag was added to gene: EXT2.
Osteogenesis imperfecta v2.13 EXT1 Arina Puzriakova Tag curated_removed tag was added to gene: EXT1.
Osteogenesis imperfecta v2.13 EVC2 Arina Puzriakova Tag curated_removed tag was added to gene: EVC2.
Osteogenesis imperfecta v2.13 EVC Arina Puzriakova Tag curated_removed tag was added to gene: EVC.
Osteogenesis imperfecta v2.13 ERCC8 Arina Puzriakova Tag curated_removed tag was added to gene: ERCC8.
Osteogenesis imperfecta v2.13 ERCC6 Arina Puzriakova Tag curated_removed tag was added to gene: ERCC6.
Osteogenesis imperfecta v2.13 EP300 Arina Puzriakova Tag curated_removed tag was added to gene: EP300.
Osteogenesis imperfecta v2.13 EIF2AK3 Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3.
Osteogenesis imperfecta v2.13 DYNC2H1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1.
Osteogenesis imperfecta v2.13 DYM Arina Puzriakova Tag curated_removed tag was added to gene: DYM.
Osteogenesis imperfecta v2.13 DHCR7 Arina Puzriakova Tag curated_removed tag was added to gene: DHCR7.
Osteogenesis imperfecta v2.13 DHCR24 Arina Puzriakova Tag curated_removed tag was added to gene: DHCR24.
Osteogenesis imperfecta v2.13 DDR2 Arina Puzriakova Tag curated_removed tag was added to gene: DDR2.
Osteogenesis imperfecta v2.13 CUL7 Arina Puzriakova Tag curated_removed tag was added to gene: CUL7.
Osteogenesis imperfecta v2.13 CTSK Arina Puzriakova Tag curated_removed tag was added to gene: CTSK.
Osteogenesis imperfecta v2.13 COMP Arina Puzriakova Tag curated_removed tag was added to gene: COMP.
Osteogenesis imperfecta v2.13 COL9A3 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A3.
Osteogenesis imperfecta v2.13 COL9A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A2.
Osteogenesis imperfecta v2.13 COL9A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A1.
Osteogenesis imperfecta v2.13 CHST3 Arina Puzriakova Tag curated_removed tag was added to gene: CHST3.
Osteogenesis imperfecta v2.13 CHST14 Arina Puzriakova Tag curated_removed tag was added to gene: CHST14.
Osteogenesis imperfecta v2.13 CDKN1C Arina Puzriakova Tag curated_removed tag was added to gene: CDKN1C.
Osteogenesis imperfecta v2.13 CANT1 Arina Puzriakova Tag curated_removed tag was added to gene: CANT1.
Osteogenesis imperfecta v2.13 BTK Arina Puzriakova Tag curated_removed tag was added to gene: BTK.
Osteogenesis imperfecta v2.13 BMPR1B Arina Puzriakova Tag curated_removed tag was added to gene: BMPR1B.
Osteogenesis imperfecta v2.13 BLM Arina Puzriakova Tag curated_removed tag was added to gene: BLM.
Osteogenesis imperfecta v2.13 ATRX Arina Puzriakova Tag curated_removed tag was added to gene: ATRX.
Osteogenesis imperfecta v2.13 ACP5 Arina Puzriakova Tag curated_removed tag was added to gene: ACP5.
Mosaic skin disorders - deep sequencing v1.5 JAK2 Arina Puzriakova Tag removed was removed from gene: JAK2.
Tag curated_removed tag was added to gene: JAK2.
Optic neuropathy v2.35 OPA8 Arina Puzriakova Tag curated_removed tag was added to gene: OPA8.
Optic neuropathy v2.35 OPA6 Arina Puzriakova Tag curated_removed tag was added to gene: OPA6.
Optic neuropathy v2.35 OPA5 Arina Puzriakova Tag curated_removed tag was added to gene: OPA5.
Optic neuropathy v2.35 OPA4 Arina Puzriakova Tag curated_removed tag was added to gene: OPA4.
Optic neuropathy v2.35 OPA2 Arina Puzriakova Tag curated_removed tag was added to gene: OPA2.
Multiple monogenic benign skin tumours v1.5 VDR Arina Puzriakova Tag curated_removed tag was added to gene: VDR.
Multiple monogenic benign skin tumours v1.5 TSC2 Arina Puzriakova Tag curated_removed tag was added to gene: TSC2.
Multiple monogenic benign skin tumours v1.5 TSC1 Arina Puzriakova Tag curated_removed tag was added to gene: TSC1.
Multiple monogenic benign skin tumours v1.5 TMC8 Arina Puzriakova Tag curated_removed tag was added to gene: TMC8.
Multiple monogenic benign skin tumours v1.5 TMC6 Arina Puzriakova Tag curated_removed tag was added to gene: TMC6.
Multiple monogenic benign skin tumours v1.5 SUFU Arina Puzriakova Tag curated_removed tag was added to gene: SUFU.
Multiple monogenic benign skin tumours v1.5 STK11 Arina Puzriakova Tag curated_removed tag was added to gene: STK11.
Multiple monogenic benign skin tumours v1.5 SASH1 Arina Puzriakova Tag curated_removed tag was added to gene: SASH1.
Multiple monogenic benign skin tumours v1.5 SAMD9 Arina Puzriakova Tag curated_removed tag was added to gene: SAMD9.
Multiple monogenic benign skin tumours v1.5 PTEN Arina Puzriakova Tag curated_removed tag was added to gene: PTEN.
Multiple monogenic benign skin tumours v1.5 PTCH2 Arina Puzriakova Tag curated_removed tag was added to gene: PTCH2.
Multiple monogenic benign skin tumours v1.5 PTCH1 Arina Puzriakova Tag curated_removed tag was added to gene: PTCH1.
Multiple monogenic benign skin tumours v1.5 PRKAR1A Arina Puzriakova Tag curated_removed tag was added to gene: PRKAR1A.
Multiple monogenic benign skin tumours v1.5 PORCN Arina Puzriakova Tag curated_removed tag was added to gene: PORCN.
Multiple monogenic benign skin tumours v1.5 PIK3CA Arina Puzriakova Tag curated_removed tag was added to gene: PIK3CA.
Multiple monogenic benign skin tumours v1.5 PDGFRB Arina Puzriakova Tag curated_removed tag was added to gene: PDGFRB.
Multiple monogenic benign skin tumours v1.5 NRAS Arina Puzriakova Tag curated_removed tag was added to gene: NRAS.
Multiple monogenic benign skin tumours v1.5 NF1 Arina Puzriakova Tag curated_removed tag was added to gene: NF1.
Multiple monogenic benign skin tumours v1.5 MC1R Arina Puzriakova Tag curated_removed tag was added to gene: MC1R.
Multiple monogenic benign skin tumours v1.5 LEF1 Arina Puzriakova Tag curated_removed tag was added to gene: LEF1.
Multiple monogenic benign skin tumours v1.5 KRT17 Arina Puzriakova Tag curated_removed tag was added to gene: KRT17.
Multiple monogenic benign skin tumours v1.5 KRAS Arina Puzriakova Tag curated_removed tag was added to gene: KRAS.
Multiple monogenic benign skin tumours v1.5 JAK2 Arina Puzriakova Tag curate was removed from gene: JAK2.
Tag curated_removed tag was added to gene: JAK2.
Multiple monogenic benign skin tumours v1.5 JAK2 Arina Puzriakova Tag curate tag was added to gene: JAK2.
Multiple monogenic benign skin tumours v1.5 IRF4 Arina Puzriakova Tag curated_removed tag was added to gene: IRF4.
Multiple monogenic benign skin tumours v1.5 HRAS Arina Puzriakova Tag curated_removed tag was added to gene: HRAS.
Multiple monogenic benign skin tumours v1.5 GLA Arina Puzriakova Tag curated_removed tag was added to gene: GLA.
Multiple monogenic benign skin tumours v1.5 GALNT3 Arina Puzriakova Tag curated_removed tag was added to gene: GALNT3.
Multiple monogenic benign skin tumours v1.5 FGFR3 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3.
Multiple monogenic benign skin tumours v1.5 FGFR2 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR2.
Multiple monogenic benign skin tumours v1.5 FGF23 Arina Puzriakova Tag curated_removed tag was added to gene: FGF23.
Multiple monogenic benign skin tumours v1.5 CTNNB1 Arina Puzriakova Tag curated_removed tag was added to gene: CTNNB1.
Multiple monogenic benign skin tumours v1.5 CIB1 Arina Puzriakova Tag curated_removed tag was added to gene: CIB1.
Multiple monogenic benign skin tumours v1.5 CDKN2A Arina Puzriakova Tag curated_removed tag was added to gene: CDKN2A.
Multiple monogenic benign skin tumours v1.5 CDK4 Arina Puzriakova Tag curated_removed tag was added to gene: CDK4.
Multiple monogenic benign skin tumours v1.5 BRAF Arina Puzriakova Tag curated_removed tag was added to gene: BRAF.
Multiple monogenic benign skin tumours v1.5 APC Arina Puzriakova Tag curated_removed tag was added to gene: APC.
Multiple monogenic benign skin tumours v1.5 ACTRT1 Arina Puzriakova Tag curated_removed tag was added to gene: ACTRT1.
Mosaic skin disorders - deep sequencing v1.5 TYRP1 Arina Puzriakova Tag curated_removed tag was added to gene: TYRP1.
Mosaic skin disorders - deep sequencing v1.5 TYR Arina Puzriakova Tag curated_removed tag was added to gene: TYR.
Mosaic skin disorders - deep sequencing v1.5 TERT Arina Puzriakova Tag curated_removed tag was added to gene: TERT.
Mosaic skin disorders - deep sequencing v1.5 NOD2 Arina Puzriakova Tag curated_removed tag was added to gene: NOD2.
Mosaic skin disorders - deep sequencing v1.5 NDUFB11 Arina Puzriakova Tag curated_removed tag was added to gene: NDUFB11.
Mosaic skin disorders - deep sequencing v1.5 MVK Arina Puzriakova Tag curated_removed tag was added to gene: MVK.
Mosaic skin disorders - deep sequencing v1.5 KITLG Arina Puzriakova Tag curated_removed tag was added to gene: KITLG.
Mosaic skin disorders - deep sequencing v1.5 JAK2 Arina Puzriakova Tag removed tag was added to gene: JAK2.
Mosaic skin disorders - deep sequencing v1.5 HCCS Arina Puzriakova Tag curated_removed tag was added to gene: HCCS.
Mosaic skin disorders - deep sequencing v1.5 COX7B Arina Puzriakova Tag curated_removed tag was added to gene: COX7B.
Mosaic skin disorders - deep sequencing v1.5 AKT3 Arina Puzriakova Tag curated_removed tag was added to gene: AKT3.
Mosaic skin disorders - deep sequencing v1.5 AKT2 Arina Puzriakova Tag curated_removed tag was added to gene: AKT2.
Limb disorders v2.36 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Limb disorders v2.36 WDR34 Arina Puzriakova Tag curated_removed tag was added to gene: WDR34.
Limb disorders v2.36 WDR19 Arina Puzriakova Tag curated_removed tag was added to gene: WDR19.
Limb disorders v2.36 TTC21B Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B.
Limb disorders v2.36 TRAF3IP1 Arina Puzriakova Tag curated_removed tag was added to gene: TRAF3IP1.
Limb disorders v2.36 TMEM237 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237.
Limb disorders v2.36 TMEM231 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231.
Limb disorders v2.36 TMEM216 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM216.
Limb disorders v2.36 TMEM138 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM138.
Limb disorders v2.36 TCTN3 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3.
Limb disorders v2.36 TCTN2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2.
Limb disorders v2.36 TCTEX1D2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTEX1D2.
Limb disorders v2.36 RPGRIP1L Arina Puzriakova Tag curated_removed tag was added to gene: RPGRIP1L.
Limb disorders v2.36 OFD1 Arina Puzriakova Tag curated_removed tag was added to gene: OFD1.
Limb disorders v2.36 NPHP3 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP3.
Limb disorders v2.36 NEK1 Arina Puzriakova Tag curated_removed tag was added to gene: NEK1.
Limb disorders v2.36 KIF7 Arina Puzriakova Tag curated_removed tag was added to gene: KIF7.
Limb disorders v2.36 KIAA0586 Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586.
Limb disorders v2.36 INPP5E Arina Puzriakova Tag curated_removed tag was added to gene: INPP5E.
Limb disorders v2.36 IFT80 Arina Puzriakova Tag curated_removed tag was added to gene: IFT80.
Limb disorders v2.36 IFT52 Arina Puzriakova Tag curated_removed tag was added to gene: IFT52.
Limb disorders v2.36 IFT172 Arina Puzriakova Tag curated_removed tag was added to gene: IFT172.
Limb disorders v2.36 IFT140 Arina Puzriakova Tag curated_removed tag was added to gene: IFT140.
Limb disorders v2.36 ICK Arina Puzriakova Tag curated_removed tag was added to gene: ICK.
Limb disorders v2.36 HYLS1 Arina Puzriakova Tag curated_removed tag was added to gene: HYLS1.
Limb disorders v2.36 EVC2 Arina Puzriakova Tag curated_removed tag was added to gene: EVC2.
Limb disorders v2.36 EVC Arina Puzriakova Tag curated_removed tag was added to gene: EVC.
Limb disorders v2.36 DYNC2LI1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2LI1.
Limb disorders v2.36 DYNC2H1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1.
Limb disorders v2.36 CSPP1 Arina Puzriakova Tag curated_removed tag was added to gene: CSPP1.
Limb disorders v2.36 CEP41 Arina Puzriakova Tag curated_removed tag was added to gene: CEP41.
Limb disorders v2.36 CEP164 Arina Puzriakova Tag curated_removed tag was added to gene: CEP164.
Limb disorders v2.36 CEP120 Arina Puzriakova Tag curated_removed tag was added to gene: CEP120.
Limb disorders v2.36 CC2D2A Arina Puzriakova Tag curated_removed tag was added to gene: CC2D2A.
Limb disorders v2.36 C5orf42 Arina Puzriakova Tag curated_removed tag was added to gene: C5orf42.
Limb disorders v2.36 C2CD3 Arina Puzriakova Tag curated_removed tag was added to gene: C2CD3.
Limb disorders v2.36 B9D2 Arina Puzriakova Tag curated_removed tag was added to gene: B9D2.
Limb disorders v2.36 ALMS1 Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1.
Limb disorders v2.36 AHI1 Arina Puzriakova Tag curated_removed tag was added to gene: AHI1.
Inherited renal cancer v1.4 PMS2 Arina Puzriakova Tag curated_removed tag was added to gene: PMS2.
Inherited renal cancer v1.4 MSH6 Arina Puzriakova Tag curated_removed tag was added to gene: MSH6.
Inherited renal cancer v1.4 MSH2 Arina Puzriakova Tag curated_removed tag was added to gene: MSH2.
Inherited renal cancer v1.4 MLH1 Arina Puzriakova Tag curated_removed tag was added to gene: MLH1.
Haematological malignancies cancer susceptibility v2.15 HPLH1 Arina Puzriakova Tag curated_removed tag was added to gene: HPLH1.
Genetic epilepsy syndromes v2.303 PROSC Arina Puzriakova Tag curated_removed tag was added to gene: PROSC.
Ehlers Danlos syndromes v2.4 TSC2 Arina Puzriakova Tag curated_removed tag was added to gene: TSC2.
Ehlers Danlos syndromes v2.4 TSC1 Arina Puzriakova Tag curated_removed tag was added to gene: TSC1.
Ehlers Danlos syndromes v2.4 SMAD4 Arina Puzriakova Tag curated_removed tag was added to gene: SMAD4.
Ehlers Danlos syndromes v2.4 SERPINA1 Arina Puzriakova Tag curated_removed tag was added to gene: SERPINA1.
Ehlers Danlos syndromes v2.4 PKD2 Arina Puzriakova Tag curated_removed tag was added to gene: PKD2.
Ehlers Danlos syndromes v2.4 MED12 Arina Puzriakova Tag curated_removed tag was added to gene: MED12.
Ehlers Danlos syndromes v2.4 GGCX Arina Puzriakova Tag curated_removed tag was added to gene: GGCX.
Ehlers Danlos syndromes v2.4 COL9A3 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A3.
Ehlers Danlos syndromes v2.4 COL9A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A2.
Ehlers Danlos syndromes v2.4 COL9A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL9A1.
Ehlers Danlos syndromes v2.4 COL2A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL2A1.
Ehlers Danlos syndromes v2.4 COL11A2 Arina Puzriakova Tag curated_removed tag was added to gene: COL11A2.
Ehlers Danlos syndromes v2.4 COL11A1 Arina Puzriakova Tag curated_removed tag was added to gene: COL11A1.
Ehlers Danlos syndromes v2.4 ABCC6 Arina Puzriakova Tag curated_removed tag was added to gene: ABCC6.
Monogenic diabetes v2.4 WRN Arina Puzriakova Tag curated_removed tag was added to gene: WRN.
Monogenic diabetes v2.4 TFR2 Arina Puzriakova Tag curated_removed tag was added to gene: TFR2.
Monogenic diabetes v2.4 STAT3 Arina Puzriakova Tag curated_removed tag was added to gene: STAT3.
Monogenic diabetes v2.4 STAT1 Arina Puzriakova Tag curated_removed tag was added to gene: STAT1.
Monogenic diabetes v2.4 SLC40A1 Arina Puzriakova Tag curated_removed tag was added to gene: SLC40A1.
Monogenic diabetes v2.4 SLC2A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC2A2.
Monogenic diabetes v2.4 SLC19A2 Arina Puzriakova Tag curated_removed tag was added to gene: SLC19A2.
Monogenic diabetes v2.4 PTF1A Arina Puzriakova Tag curated_removed tag was added to gene: PTF1A.
Monogenic diabetes v2.4 PSMB8 Arina Puzriakova Tag curated_removed tag was added to gene: PSMB8.
Monogenic diabetes v2.4 PPP1R3A Arina Puzriakova Tag curated_removed tag was added to gene: PPP1R3A.
Monogenic diabetes v2.4 POC1A Arina Puzriakova Tag curated_removed tag was added to gene: POC1A.
Monogenic diabetes v2.4 PCYT1A Arina Puzriakova Tag curated_removed tag was added to gene: PCYT1A.
Monogenic diabetes v2.4 PCNT Arina Puzriakova Tag curated_removed tag was added to gene: PCNT.
Monogenic diabetes v2.4 PAX4 Arina Puzriakova Tag curated_removed tag was added to gene: PAX4.
Monogenic diabetes v2.4 NSMCE2 Arina Puzriakova Tag curated_removed tag was added to gene: NSMCE2.
Monogenic diabetes v2.4 NKX2-2 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-2.
Monogenic diabetes v2.4 NEUROG3 Arina Puzriakova Tag curated_removed tag was added to gene: NEUROG3.
Monogenic diabetes v2.4 MNX1 Arina Puzriakova Tag curated_removed tag was added to gene: MNX1.
Monogenic diabetes v2.4 LRBA Arina Puzriakova Tag curated_removed tag was added to gene: LRBA.
Monogenic diabetes v2.4 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Monogenic diabetes v2.4 KLF11 Arina Puzriakova Tag curated_removed tag was added to gene: KLF11.
Monogenic diabetes v2.4 IL2RA Arina Puzriakova Tag curated_removed tag was added to gene: IL2RA.
Monogenic diabetes v2.4 IER3IP1 Arina Puzriakova Tag curated_removed tag was added to gene: IER3IP1.
Monogenic diabetes v2.4 HFE2 Arina Puzriakova Tag curated_removed tag was added to gene: HFE2.
Monogenic diabetes v2.4 HFE Arina Puzriakova Tag curated_removed tag was added to gene: HFE.
Monogenic diabetes v2.4 HAMP Arina Puzriakova Tag curated_removed tag was added to gene: HAMP.
Monogenic diabetes v2.4 GLIS3 Arina Puzriakova Tag curated_removed tag was added to gene: GLIS3.
Monogenic diabetes v2.4 FOXP3 Arina Puzriakova Tag curated_removed tag was added to gene: FOXP3.
Monogenic diabetes v2.4 FOXC2 Arina Puzriakova Tag curated_removed tag was added to gene: FOXC2.
Monogenic diabetes v2.4 FGFR3 Arina Puzriakova Tag curated_removed tag was added to gene: FGFR3.
Monogenic diabetes v2.4 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Monogenic diabetes v2.4 EIF2AK3 Arina Puzriakova Tag curated_removed tag was added to gene: EIF2AK3.
Monogenic diabetes v2.4 DMXL2 Arina Puzriakova Tag curated_removed tag was added to gene: DMXL2.
Monogenic diabetes v2.4 CAVIN1 Arina Puzriakova Tag curated_removed tag was added to gene: CAVIN1.
Monogenic diabetes v2.4 BSCL2 Arina Puzriakova Tag curated_removed tag was added to gene: BSCL2.
Monogenic diabetes v2.4 BLM Arina Puzriakova Tag curated_removed tag was added to gene: BLM.
Monogenic diabetes v2.4 BLK Arina Puzriakova Tag curated_removed tag was added to gene: BLK.
Monogenic diabetes v2.4 ALMS1 Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1.
Monogenic diabetes v2.4 AGPAT2 Arina Puzriakova Tag curated_removed tag was added to gene: AGPAT2.
Craniosynostosis v2.23 KANSL1-AS1 Arina Puzriakova Tag curated_removed tag was added to gene: KANSL1-AS1.
Clefting v2.24 FSHMD1A Arina Puzriakova Tag curated_removed tag was added to gene: FSHMD1A.
Cholestasis v1.81 TMEM67 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM67.
Cholestasis v1.81 RPGRIP1L Arina Puzriakova Tag curated_removed tag was added to gene: RPGRIP1L.
Cholestasis v1.81 CC2D2A Arina Puzriakova Tag curated_removed tag was added to gene: CC2D2A.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TY Arina Puzriakova Tag curated_removed tag was added to gene: MT-TY.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TW Arina Puzriakova Tag curated_removed tag was added to gene: MT-TW.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TV Arina Puzriakova Tag curated_removed tag was added to gene: MT-TV.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TT Arina Puzriakova Tag curated_removed tag was added to gene: MT-TT.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TS2 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TS2.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TS1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TS1.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TR Arina Puzriakova Tag curated_removed tag was added to gene: MT-TR.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TQ Arina Puzriakova Tag curated_removed tag was added to gene: MT-TQ.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TP Arina Puzriakova Tag curated_removed tag was added to gene: MT-TP.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TN Arina Puzriakova Tag curated_removed tag was added to gene: MT-TN.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TM Arina Puzriakova Tag curated_removed tag was added to gene: MT-TM.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TL2 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL2.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TK Arina Puzriakova Tag curated_removed tag was added to gene: MT-TK.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TI Arina Puzriakova Tag curated_removed tag was added to gene: MT-TI.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TH Arina Puzriakova Tag curated_removed tag was added to gene: MT-TH.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TG Arina Puzriakova Tag curated_removed tag was added to gene: MT-TG.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TF Arina Puzriakova Tag curated_removed tag was added to gene: MT-TF.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TE Arina Puzriakova Tag curated_removed tag was added to gene: MT-TE.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TD Arina Puzriakova Tag curated_removed tag was added to gene: MT-TD.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TC Arina Puzriakova Tag curated_removed tag was added to gene: MT-TC.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-TA Arina Puzriakova Tag curated_removed tag was added to gene: MT-TA.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-RNR2 Arina Puzriakova Tag curated_removed tag was added to gene: MT-RNR2.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-RNR1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-RNR1.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND6 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND6.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND5 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND5.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND4L Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND4L.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND4 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND4.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND3 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND3.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND2 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND2.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ND1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND1.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-CYB Arina Puzriakova Tag curated_removed tag was added to gene: MT-CYB.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-CO3 Arina Puzriakova Tag curated_removed tag was added to gene: MT-CO3.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-CO2 Arina Puzriakova Tag curated_removed tag was added to gene: MT-CO2.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-CO1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-CO1.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ATP8 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ATP8.
Childhood onset dystonia or chorea or related movement disorder v1.83 MT-ATP6 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ATP6.
Cerebral vascular malformations v2.8 MYMY3 Arina Puzriakova Tag curated_removed tag was added to gene: MYMY3.
Cerebral vascular malformations v2.8 MYMY1 Arina Puzriakova Tag curated_removed tag was added to gene: MYMY1.
Cerebral vascular malformations v2.8 ANIB1 Arina Puzriakova Tag curated_removed tag was added to gene: ANIB1.
Bardet Biedl syndrome v1.9 ALMS1 Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1.
Familial diabetes v1.59 ENPP1 Arina Puzriakova Classified gene: ENPP1 as No list
Familial diabetes v1.59 ENPP1 Arina Puzriakova Gene: enpp1 has been removed from the panel.
Intellectual disability v3.966 KCNN3 Arina Puzriakova changed review comment from: Comment on mode of pathogenicity: Gain-of-function variants identified in all patients, reported to date.; to: Comment on mode of pathogenicity: Gain-of-function variants identified in all patients reported to date.
Intellectual disability v3.966 KCNN3 Arina Puzriakova Phenotypes for gene: KCNN3 were changed from Zimmermann-Laband syndrome 3; OMIM# 618658 to Zimmermann-Laband syndrome 3, OMIM:618658
Intellectual disability v3.965 KCNH1 Arina Puzriakova Publications for gene: KCNH1 were set to 25420144
Intellectual disability v3.964 KCNH1 Arina Puzriakova Phenotypes for gene: KCNH1 were changed from TEMPLE BARRAISTER SYNDROME to Temple-Baraitser syndrome, OMIM:611816; Temple-Baraitser syndrome, MONDO:0012735; Zimmermann-Laband syndrome 1, OMIM:135500; Zimmermann-Laband syndrome 1, MONDO:0024526
Intellectual disability v3.963 ERBB4 Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: ERBB4.
Arthrogryposis v3.74 MYLPF Arina Puzriakova Tag watchlist tag was added to gene: MYLPF.
Arthrogryposis v3.74 MYLPF Arina Puzriakova edited their review of gene: MYLPF: Changed rating: AMBER
Arthrogryposis v3.74 MYLPF Arina Puzriakova Classified gene: MYLPF as Amber List (moderate evidence)
Arthrogryposis v3.74 MYLPF Arina Puzriakova Added comment: Comment on list classification: Given there are 6 families and different ethnic backgrounds, the biallelic form technically reaches the threshold for inclusion as Green. However, it should be considered that only the residue Cys157 has been implicated to date and the mechanism of pathogenicity is not clear.

Therefore rating Amber awaiting additional cases/functional evidence and further assessment by the GMS expert team to determine the most appropriate rating in view of the current evidence (tagged for 'expert-review')
Arthrogryposis v3.74 MYLPF Arina Puzriakova Gene: mylpf has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.73 MYLPF Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: MYLPF.
Arthrogryposis v3.73 MYLPF Arina Puzriakova Added comment: Comment on mode of inheritance: Following consultation with Helen Brittain (Genomics England Clinical Team) it was agreed that in view of only 2 families with arthrogryposis and monoallelic variants in this gene there is currently not enough evidence to support inclusion of the monoallelic form. More cases or a delineation of the mechanism of pathogenicity are required before considering adding this as an MOI.
Arthrogryposis v3.73 MYLPF Arina Puzriakova Mode of inheritance for gene: MYLPF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.72 MYLPF Arina Puzriakova reviewed gene: MYLPF: Rating: ; Mode of pathogenicity: None; Publications: 32707087; Phenotypes: Arthrogryposis, distal, type 1C, OMIM:619110, Arthrogryposis, distal, type 1C, MONDO:0030847; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe microcephaly v2.102 C7orf43 Arina Puzriakova changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is MAP11; to: Added new-gene-name tag, new approved HGNC gene symbol for C7orf43 is TRAPPC14
Proteinuric renal disease v2.48 LCAT Ania Koziell reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: Muthusethupathi MA, Padmanabhan R, Date A, Jayakumar M, Rajendran S, Vijayakumar R. Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India. Nephron. 1999 Jan, 81(1):89-93. doi: 10.1159/000045253. PMID: 9884427.; Phenotypes: proteinuric renal disease, pseudo-membranous nephropathy, unexplained renal failure in young adults; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pancreatitis v2.7 CELA3B Miranda Durkie gene: CELA3B was added
gene: CELA3B was added to Pancreatitis. Sources: Literature
Mode of inheritance for gene: CELA3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CELA3B were set to Chronic Pancreatitis; Diabetes; Pancreatic cancer
Penetrance for gene: CELA3B were set to Incomplete
Mode of pathogenicity for gene: CELA3B 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: CELA3B was set to GREEN
Added comment: PMID: 31369399 - 1 large family with 17 affected family members across 4 generations. Exome sequencing identified c.268C>T p.(Arg90Cys) in CELA3B gene in affected mother and affected daughter (not present in unaffected son). Does not segregate with disease in a further 6 unaffected family members. Functional studies showed both this variant and p.(Arg90Leu) variants cause translational upregulation of CELA3B, which, upon secretion and activation by
trypsin, leads to uncontrolled proteolysis and recurrent pancreatitis.
PMID: 33565216 - Sequenced CELA3B in 644 genetically unexplained French chronic pancreatitis (CP) patients (all unrelated) and 566 controls. No loss of function variants found, however found p.Arg90Leu (c.269G>T) in four patients but no controls.
Therefore 5 families identified with p.(Arg90Cys) or p.(Arg90Leu) and supporting functional assay for these variants only.
Sources: Literature
Dilated cardiomyopathy - adult and teen v1.13 NRAP Ivone Leong Classified gene: NRAP as Amber List (moderate evidence)
Dilated cardiomyopathy - adult and teen v1.13 NRAP Ivone Leong Gene: nrap has been classified as Amber List (Moderate Evidence).
Dilated cardiomyopathy - adult and teen v1.12 NRAP Ivone Leong gene: NRAP was added
gene: NRAP was added to Dilated cardiomyopathy - adult and teen. Sources: Literature
Q2_21_rating tags were added to gene: NRAP.
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy, MONDO:0005021
Review for gene: NRAP was set to GREEN
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene and having DCM.

https://doi.org/10.1101/2020.10.12.20211474 also describes a CRISPR knockout zebrafish which had a cardiac phenotype.

Therefore, there is enough evidence to support a gene-disease association and this gene is recommended to be promoted Green at the next panel review.
Sources: Literature
Intellectual disability v3.963 CXorf56 Catherine Snow Tag new-gene-name tag was added to gene: CXorf56.
Intellectual disability v3.963 CXorf56 Catherine Snow commented on gene: CXorf56
Autism v0.20 MPP6 Catherine Snow Tag new-gene-name tag was added to gene: MPP6.
Autism v0.20 MPP6 Catherine Snow commented on gene: MPP6
Intellectual disability v3.963 MPP5 Catherine Snow Tag new-gene-name tag was added to gene: MPP5.
Intellectual disability v3.963 MPP5 Catherine Snow commented on gene: MPP5
COVID-19 research v1.76 MPP5 Catherine Snow Tag new-gene-name tag was added to gene: MPP5.
COVID-19 research v1.76 MPP5 Catherine Snow commented on gene: MPP5
DDG2P v2.21 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
DDG2P v2.21 TTC25 Catherine Snow commented on gene: TTC25
Fetal anomalies v1.628 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Fetal anomalies v1.628 TTC25 Catherine Snow commented on gene: TTC25
Respiratory ciliopathies including non-CF bronchiectasis v1.43 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 TTC25 Catherine Snow commented on gene: TTC25
Laterality disorders and isomerism v1.21 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Laterality disorders and isomerism v1.21 TTC25 Catherine Snow commented on gene: TTC25
Autism v0.20 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Autism v0.20 TTC25 Catherine Snow commented on gene: TTC25
Rare multisystem ciliopathy disorders v1.139 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Rare multisystem ciliopathy disorders v1.139 CCDC151 Catherine Snow commented on gene: CCDC151
DDG2P v2.21 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
DDG2P v2.21 CCDC151 Catherine Snow commented on gene: CCDC151
Fetal anomalies v1.628 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Fetal anomalies v1.628 CCDC151 Catherine Snow commented on gene: CCDC151
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC151 Catherine Snow commented on gene: CCDC151
Laterality disorders and isomerism v1.21 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Laterality disorders and isomerism v1.21 CCDC151 Catherine Snow commented on gene: CCDC151
Primary ciliary disorders v1.29 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Primary ciliary disorders v1.29 CCDC151 Catherine Snow commented on gene: CCDC151
Severe Paediatric Disorders v1.62 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Severe Paediatric Disorders v1.62 ARMC4 Catherine Snow commented on gene: ARMC4
Rare multisystem ciliopathy disorders v1.139 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Rare multisystem ciliopathy disorders v1.139 ARMC4 Catherine Snow commented on gene: ARMC4
Intellectual disability v3.963 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Intellectual disability v3.963 ARMC4 Catherine Snow commented on gene: ARMC4
DDG2P v2.21 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
DDG2P v2.21 ARMC4 Catherine Snow commented on gene: ARMC4
Fetal anomalies v1.628 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Fetal anomalies v1.628 ARMC4 Catherine Snow commented on gene: ARMC4
Respiratory ciliopathies including non-CF bronchiectasis v1.43 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 ARMC4 Catherine Snow commented on gene: ARMC4
Laterality disorders and isomerism v1.21 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Laterality disorders and isomerism v1.21 ARMC4 Catherine Snow commented on gene: ARMC4
Primary ciliary disorders v1.29 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
Primary ciliary disorders v1.29 ARMC4 Catherine Snow commented on gene: ARMC4
Severe Paediatric Disorders v1.62 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Severe Paediatric Disorders v1.62 CCDC114 Catherine Snow commented on gene: CCDC114
Rare multisystem ciliopathy disorders v1.139 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Rare multisystem ciliopathy disorders v1.139 CCDC114 Catherine Snow commented on gene: CCDC114
Intellectual disability v3.963 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Intellectual disability v3.963 CCDC114 Catherine Snow commented on gene: CCDC114
DDG2P v2.21 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
DDG2P v2.21 CCDC114 Catherine Snow commented on gene: CCDC114
Fetal anomalies v1.628 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Fetal anomalies v1.628 CCDC114 Catherine Snow commented on gene: CCDC114
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CCDC114 Catherine Snow commented on gene: CCDC114
Laterality disorders and isomerism v1.21 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Laterality disorders and isomerism v1.21 CCDC114 Catherine Snow commented on gene: CCDC114
Primary ciliary disorders v1.29 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Primary ciliary disorders v1.29 CCDC114 Catherine Snow commented on gene: CCDC114
Ductal plate malformation v1.16 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Ductal plate malformation v1.16 CCDC114 Catherine Snow commented on gene: CCDC114
Severe Paediatric Disorders v1.62 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Severe Paediatric Disorders v1.62 C12orf65 Catherine Snow commented on gene: C12orf65
Childhood onset dystonia or chorea or related movement disorder v1.83 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Childhood onset dystonia or chorea or related movement disorder v1.83 C12orf65 Catherine Snow commented on gene: C12orf65
Hereditary neuropathy NOT PMP22 copy number v1.23 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary neuropathy NOT PMP22 copy number v1.23 C12orf65 Catherine Snow commented on gene: C12orf65
Retinal disorders v2.172 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Retinal disorders v2.172 C12orf65 Catherine Snow commented on gene: C12orf65
Mitochondrial disorders v2.19 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Mitochondrial disorders v2.19 C12orf65 Catherine Snow commented on gene: C12orf65
Intellectual disability v3.963 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Intellectual disability v3.963 C12orf65 Catherine Snow commented on gene: C12orf65
Hereditary neuropathy v1.383 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary neuropathy v1.383 C12orf65 Catherine Snow commented on gene: C12orf65
DDG2P v2.21 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
DDG2P v2.21 C12orf65 Catherine Snow commented on gene: C12orf65
Fetal anomalies v1.628 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Fetal anomalies v1.628 C12orf65 Catherine Snow commented on gene: C12orf65
Possible mitochondrial disorder - nuclear genes v1.37 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Possible mitochondrial disorder - nuclear genes v1.37 C12orf65 Catherine Snow commented on gene: C12orf65
Inborn errors of metabolism v2.101 C12orf65 Catherine Snow commented on gene: C12orf65
Inborn errors of metabolism v2.101 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Undiagnosed metabolic disorders v1.447 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Undiagnosed metabolic disorders v1.447 C12orf65 Catherine Snow commented on gene: C12orf65
Neurodegenerative disorders - adult onset v2.39 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Neurodegenerative disorders - adult onset v2.39 C12orf65 Catherine Snow commented on gene: C12orf65
Hereditary spastic paraplegia - adult onset v1.16 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary spastic paraplegia - adult onset v1.16 C12orf65 Catherine Snow commented on gene: C12orf65
Hereditary spastic paraplegia - childhood onset v2.28 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary spastic paraplegia - childhood onset v2.28 C12orf65 Catherine Snow commented on gene: C12orf65
Arthrogryposis v3.72 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Arthrogryposis v3.72 C12orf65 Catherine Snow commented on gene: C12orf65
Optic neuropathy v2.35 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Optic neuropathy v2.35 C12orf65 Catherine Snow commented on gene: C12orf65
Hereditary spastic paraplegia v1.219 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary spastic paraplegia v1.219 C12orf65 Catherine Snow commented on gene: C12orf65
Primary immunodeficiency v2.401 MAP1LC3B2 Boaz Palterer gene: MAP1LC3B2 was added
gene: MAP1LC3B2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: MAP1LC3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP1LC3B2 were set to 33310865
Phenotypes for gene: MAP1LC3B2 were set to Mollaret’s meningitis; recurrent HSV2 meningitis
Penetrance for gene: MAP1LC3B2 were set to unknown
Review for gene: MAP1LC3B2 was set to RED
Added comment: Hait et al. described a single patient with a rare heterozygous variant in MAP1LC3B2 presenting with recurrent HSV2 meningitis (Mollaret's meningitis). They showed that the mutations caused impaired HSV2-induced autophagy leading to increased viral replication and apoptosis of patient fibroblasts. The defect was rescued by the introduction of WT MAP1LC3B2 into patient fibroblasts.
Sources: Literature
Primary immunodeficiency v2.401 ATG4A Boaz Palterer gene: ATG4A was added
gene: ATG4A was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ATG4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATG4A were set to 33310865
Phenotypes for gene: ATG4A were set to Mollaret’s meningitis; recurrent HSV2 meningitis
Penetrance for gene: ATG4A were set to unknown
Review for gene: ATG4A was set to RED
Added comment: Hait et al. described a single patient with a rare heterozygous variant in ATG4 presenting with recurrent HSV2 meningitis (Mollaret's meningitis). They showed that the mutations caused impaired HSV2-induced autophagy leading to increased viral replication and apoptosis of patient fibroblasts. The defect was rescued by the introduction of WT ATG4 into patient fibroblasts.
Sources: Literature
Primary immunodeficiency v2.401 RAD50 Boaz Palterer gene: RAD50 was added
gene: RAD50 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 33378670
Phenotypes for gene: RAD50 were set to bone marrow failure; immunodeficiency; developmental defect
Penetrance for gene: RAD50 were set to unknown
Review for gene: RAD50 was set to RED
Added comment: Chansel-Da Cruz et al. identified a single patient with bone marrow failure, immunodeficiency and developmental defect caused by compound heterozygous mutations in RAD50. The first mutations generate a null allele, the second is hypothesized to be hypomorphic because of the loss of a single amino acid residue in the coiled-coil domain of RAD50.
Sources: Literature
Primary immunodeficiency v2.401 POU2AF1 Boaz Palterer gene: POU2AF1 was added
gene: POU2AF1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: POU2AF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POU2AF1 were set to 33571536
Phenotypes for gene: POU2AF1 were set to Agammaglobulinemia; Immunodeficiency; Bob1 deficiency
Penetrance for gene: POU2AF1 were set to unknown
Review for gene: POU2AF1 was set to RED
Added comment: Kury et al. described a single patient from consanguineous parents carrying a homozygous frameshift mutation in POU2AF1, encoding for Bob1, presenting with agammaglobulinemia with normal B cells. Functional data showed that Bob1 deficiency ex vivo and in a mouse KO model reduced B-cell responsiveness, impaired plasmablast formation and immunoglobulin secretion.
Sources: Literature
Primary immunodeficiency v2.401 GIMAP5 Boaz Palterer gene: GIMAP5 was added
gene: GIMAP5 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIMAP5 were set to lymphopenia; autoimmunity; immunodeficiency; liver disease
Penetrance for gene: GIMAP5 were set to unknown
Review for gene: GIMAP5 was set to RED
Added comment: Park et al. (https://www.biorxiv.org/content/10.1101/2021.02.22.432146v1.full.pdf) identified biallelic mutations in GIMAP5 in 10 subjects from 4 kindreds with severe progressive
lymphopenia, autoimmunity, immunodeficiency, and liver disease
Sources: Literature
Severe Paediatric Disorders v1.62 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Severe Paediatric Disorders v1.62 G6PC Catherine Snow commented on gene: G6PC
Childhood onset dystonia or chorea or related movement disorder v1.83 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Childhood onset dystonia or chorea or related movement disorder v1.83 G6PC Catherine Snow commented on gene: G6PC
Mitochondrial disorders v2.19 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Mitochondrial disorders v2.19 G6PC Catherine Snow commented on gene: G6PC
Possible mitochondrial disorder - nuclear genes v1.37 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Possible mitochondrial disorder - nuclear genes v1.37 G6PC Catherine Snow commented on gene: G6PC
Inborn errors of metabolism v2.101 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Inborn errors of metabolism v2.101 G6PC Catherine Snow commented on gene: G6PC
Undiagnosed metabolic disorders v1.447 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Undiagnosed metabolic disorders v1.447 G6PC Catherine Snow commented on gene: G6PC
Glycogen storage disease v1.4 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Glycogen storage disease v1.4 G6PC Catherine Snow commented on gene: G6PC
Hyperammonaemia v1.8 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Hyperammonaemia v1.8 G6PC Catherine Snow commented on gene: G6PC
Ketotic hypoglycaemia v1.4 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Ketotic hypoglycaemia v1.4 G6PC Catherine Snow commented on gene: G6PC
Intellectual disability v3.963 FAM160B1 Catherine Snow Tag new-gene-name tag was added to gene: FAM160B1.
Intellectual disability v3.963 FAM160B1 Catherine Snow commented on gene: FAM160B1
Severe Paediatric Disorders v1.62 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Severe Paediatric Disorders v1.62 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Childhood onset dystonia or chorea or related movement disorder v1.83 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Childhood onset dystonia or chorea or related movement disorder v1.83 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Skeletal ciliopathies v1.10 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Skeletal ciliopathies v1.10 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Rare multisystem ciliopathy disorders v1.139 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Rare multisystem ciliopathy disorders v1.139 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Fetal anomalies v1.628 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Fetal anomalies v1.628 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Skeletal dysplasia v2.83 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Skeletal dysplasia v2.83 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Limb disorders v2.36 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Limb disorders v2.36 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Thoracic dystrophies v1.12 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Thoracic dystrophies v1.12 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Severe Paediatric Disorders v1.62 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Severe Paediatric Disorders v1.62 LRRC6 Catherine Snow commented on gene: LRRC6
Rare multisystem ciliopathy disorders v1.139 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Rare multisystem ciliopathy disorders v1.139 LRRC6 Catherine Snow commented on gene: LRRC6
Intellectual disability v3.963 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Intellectual disability v3.963 LRRC6 Catherine Snow commented on gene: LRRC6
DDG2P v2.21 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
DDG2P v2.21 LRRC6 Catherine Snow commented on gene: LRRC6
Fetal anomalies v1.628 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Fetal anomalies v1.628 LRRC6 Catherine Snow commented on gene: LRRC6
Respiratory ciliopathies including non-CF bronchiectasis v1.43 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Respiratory ciliopathies including non-CF bronchiectasis v1.43 LRRC6 Catherine Snow commented on gene: LRRC6
Laterality disorders and isomerism v1.21 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Laterality disorders and isomerism v1.21 LRRC6 Catherine Snow commented on gene: LRRC6
Primary ciliary disorders v1.29 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Primary ciliary disorders v1.29 LRRC6 Catherine Snow commented on gene: LRRC6
Ductal plate malformation v1.16 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Ductal plate malformation v1.16 LRRC6 Catherine Snow commented on gene: LRRC6
Mitochondrial disorders v2.19 USMG5 Catherine Snow commented on gene: USMG5
Mitochondrial disorders v2.19 USMG5 Catherine Snow Tag new-gene-name tag was added to gene: USMG5.
Intellectual disability v3.963 CDK19 Sarah Leigh edited their review of gene: CDK19: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN
Genomic imprinting v0.90 Sarah Leigh Panel name changed from Imprinted Genes to Genomic imprinting
Panel types changed to Research
Genetic epilepsy syndromes v2.303 CDK19 Julia Baptista reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: None; Publications: 33495529, 33568421, 32330417; Phenotypes: developmental delay, hypotonia, seizures, autism/autistic traits; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Unexplained kidney failure in young people v1.92 TRIM8 Julia Baptista gene: TRIM8 was added
gene: TRIM8 was added to Unexplained kidney failure in young people. Sources: Literature
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM8 were set to 33508234
Phenotypes for gene: TRIM8 were set to nephrotic syndrome; epilepsy
Mode of pathogenicity for gene: TRIM8 was set to Other
Review for gene: TRIM8 was set to GREEN
Added comment: Eight families with NFS, six confirmed de novo heterozygous variants clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Gain-of-function is the proposed disease mechanism.
Sources: Literature
Intellectual disability v3.963 ERBB4 Julia Baptista gene: ERBB4 was added
gene: ERBB4 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBB4 were set to 33603162
Phenotypes for gene: ERBB4 were set to intellectual disability; epilepsy
Penetrance for gene: ERBB4 were set to Incomplete
Review for gene: ERBB4 was set to GREEN
Added comment: Heterozygous intragenic multi-exonic ERBB4 deletions were identified in nine individuals from five unrelated families. Affected individuals had either non-syndromic ID or generalised epilepsy.
The deletion segregated with the phenotype in five affected individuals in one family, it was de novo in a second family and the inheritance was unknown in two families. In the fifth family, the deletion was inherited from a normal parent.
Sources: Literature
Renal ciliopathies v1.40 DLG5 Julia Baptista reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32631816; Phenotypes: Cystic kidneys, hydrocephalus, retinal abnormality, cleft palate, rhizomelic limb shortening; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v3.963 KCNH1 Julia Baptista reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33594261; Phenotypes: Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability v3.963 KCNN3 Julia Baptista reviewed gene: KCNN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33594261; Phenotypes: developmental delay, ID, hypotonia, gingival enlargement, hypertrichosis, nail anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Osteogenesis imperfecta v2.13 UNC45A Julia Baptista reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: cholestasis, diarrhea, bone fragility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v3.963 CDK19 Julia Baptista changed review comment from: De novo missense variants mapped to the kinase domain of CDK19 were described in 11 unrelated individuals (age range: 9 months to 14 years).Two recurrent changes at residues Tyr32 and Gly28 were identified.
One additional case report (PMID:33568421) described a 10-month-old male patient who presented with a neurodevelopmental syndrome characterized by infantile spasms and a de novo missense variant c.92C>A (p.Thr31Asn) (also in the kinase domain). This brings the total of cases reported in the literature to 15.; to: De novo missense variants mapped to the kinase domain of CDK19 were described in 11 unrelated individuals (age range: 9 months to 14 years).Two recurrent changes at residues Tyr32 and Gly28 were identified.
One additional case report (PMID:33568421) described a 10-month-old male patient who presented with a neurodevelopmental syndrome characterized by infantile spasms and a de novo missense variant c.92C>A (p.Thr31Asn) (also in the kinase domain). This brings the total of cases reported in the literature to 15.
Intellectual disability v3.963 CDK19 Julia Baptista reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33495529, 33568421, 32330417; Phenotypes: developmental delay, hypotonia, seizures, autism/autistic traits; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic epilepsy syndromes v2.303 SCAMP5 Sarah Leigh Tag Q2_21_rating tag was added to gene: SCAMP5.
Genetic epilepsy syndromes v2.303 SCAMP5 Sarah Leigh edited their review of gene: SCAMP5: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen (18/02/2021). At single heterozygous variant (NM_001178111.1: c.538G>T, p.Gly180Trp) has been reported to be associated with intellectual disability; seizures; autism in at least six unrelated cases (PMID 33390987; 31439720).; Changed rating: GREEN
Genetic epilepsy syndromes v2.303 SCAMP5 Sarah Leigh Classified gene: SCAMP5 as Amber List (moderate evidence)
Genetic epilepsy syndromes v2.303 SCAMP5 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Genetic epilepsy syndromes v2.303 SCAMP5 Sarah Leigh Gene: scamp5 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.302 SCAMP5 Sarah Leigh Added comment: Comment on phenotypes: OMIM does not have a phenotype associated with variants in this gene (18/02/21).
Genetic epilepsy syndromes v2.302 SCAMP5 Sarah Leigh Phenotypes for gene: SCAMP5 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of nervous system morphology; Behavioral abnormality to Global developmental delay; Intellectual disability; Seizures; Abnormality of nervous system morphology; Behavioral abnormality
Genetic epilepsy syndromes v2.301 SCAMP5 Sarah Leigh Publications for gene: SCAMP5 were set to 31439720; 20071347; 32020363
Adult onset movement disorder v1.20 PPP2R5D Sarah Leigh Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 to Mental retardation, autosomal dominant 35 OMIM:616355; intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602
Adult onset movement disorder v1.19 PPP2R5D Sarah Leigh changed review comment from: Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (three cases)).; to: Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (four cases)).
Adult onset movement disorder v1.19 PPP2R5D Sarah Leigh edited their review of gene: PPP2R5D: Added comment: Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (three cases)).; Changed rating: GREEN
Adult onset movement disorder v1.19 PPP2R5D Sarah Leigh Classified gene: PPP2R5D as Amber List (moderate evidence)
Adult onset movement disorder v1.19 PPP2R5D Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset movement disorder v1.19 PPP2R5D Sarah Leigh Gene: ppp2r5d has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v1.18 PPP2R5D Sarah Leigh Tag Q2_21_phenotype tag was added to gene: PPP2R5D.
Adult onset movement disorder v1.18 PPP2R5D Sarah Leigh Publications for gene: PPP2R5D were set to 33338668; 32743835
Hereditary ataxia v1.211 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Hereditary ataxia v1.210 CLP1 Sarah Leigh Publications for gene: CLP1 were set to
Hereditary ataxia v1.209 CLP1 Sarah Leigh Classified gene: CLP1 as Green List (high evidence)
Hereditary ataxia v1.209 CLP1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. A single variant was reported in Turkish families who shared an 11.5 Mb haplotype in the CLP1 region, this did not suggest a recent ancestory amongst seemingly unrelated families (PMID 24766809). Supportive functional studies and a mouse model were also reported.
Hereditary ataxia v1.209 CLP1 Sarah Leigh Gene: clp1 has been classified as Green List (High Evidence).
DDG2P v2.21 CLP1 Sarah Leigh Publications for gene: CLP1 were set to 24766809
Severe Paediatric Disorders v1.62 CLP1 Sarah Leigh Publications for gene: CLP1 were set to 30847515
Severe Paediatric Disorders v1.61 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766810, 24766809, 29307788; Phenotypes: ; Mode of inheritance: None
DDG2P v2.20 CLP1 Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence)
DDG2P v2.20 CLP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.20 CLP1 Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence).
DDG2P v2.19 CLP1 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLP1.
DDG2P v2.19 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.628 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia and cerebellar anomalies - narrow panel v2.48 CLP1 Sarah Leigh edited their review of gene: CLP1: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. A single variant was reported in Turkish families who shared an 11.5 Mb haplotype in the CLP1 region, this did not suggest a recent ancestory amongst seemingly unrelated families (PMID 24766809). Supportive functional studies and a mouse model were also reported.; Changed rating: GREEN; Changed publications: 24766810
Ataxia and cerebellar anomalies - narrow panel v2.48 CLP1 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLP1.
Ataxia and cerebellar anomalies - narrow panel v2.48 CLP1 Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.48 CLP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Ataxia and cerebellar anomalies - narrow panel v2.48 CLP1 Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v1.5 MVD Zornitza Stark reviewed gene: MVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33491095; Phenotypes: Porokeratosis 7, multiple types, MIM# 614714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v1.5 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 32908217, 29077987; Phenotypes: Incontinentia pigmenti, 308300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mosaic skin disorders - deep sequencing v1.5 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937562, 30580445; Phenotypes: Keratinocytic epidermal naevi; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v1.5 ATP2A2 Zornitza Stark reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30085326, 26154588, 21720150, 12890216; Phenotypes: Darier disease, MIM# 124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v2.172 ZFYVE26 Ivone Leong Classified gene: ZFYVE26 as Amber List (moderate evidence)
Retinal disorders v2.172 ZFYVE26 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.172 ZFYVE26 Ivone Leong Gene: zfyve26 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.171 ZFYVE26 Ivone Leong Tag Q2_21_rating tag was added to gene: ZFYVE26.
Retinal disorders v2.171 ZFYVE26 Ivone Leong Publications for gene: ZFYVE26 were set to 18394578; 14409555; 19805727
Retinal disorders v2.170 ZFYVE26 Ivone Leong Publications for gene: ZFYVE26 were set to 18394578; 14409555
Retinal disorders v2.169 ZFYVE26 Ivone Leong Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive MIM#270700 to Spastic paraplegia 15, autosomal recessive OMIM:270700
Retinal disorders v2.168 UNC119 Ivone Leong Classified gene: UNC119 as Amber List (moderate evidence)
Retinal disorders v2.168 UNC119 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. Based on the available evidence there are 2 independent cases with an animal model, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Retinal disorders v2.168 UNC119 Ivone Leong Gene: unc119 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.167 UNC119 Ivone Leong Tag Q2_21_rating tag was added to gene: UNC119.
Retinal disorders v2.167 WDPCP Ivone Leong Phenotypes for gene: WDPCP were changed from Eye Disorders to Bardet-Biedl syndrome 15, OMIM:615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, OMIM:217085
Retinal disorders v2.166 WDPCP Ivone Leong Added comment: Comment on publications: New publications added
Retinal disorders v2.166 WDPCP Ivone Leong Publications for gene: WDPCP were set to
Retinal disorders v2.165 UNC119 Ivone Leong Publications for gene: UNC119 were set to
Hereditary ataxia - adult onset v2.25 CHMP1A Sarah Leigh Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia, type 8, 614961; Pontocerebellar hypoplasia type 8, 614961 to Pontocerebellar hypoplasia, type 8 OMIM:614961; pontocerebellar hypoplasia type 8 MONDO:0013990
Hereditary ataxia - adult onset v2.24 CHMP1A Sarah Leigh Publications for gene: CHMP1A were set to
Hereditary ataxia - adult onset v2.23 CHMP1A Sarah Leigh reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia - adult onset v2.23 CHMP1A Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CHMP1A.
Ataxia and cerebellar anomalies - narrow panel v2.47 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Intellectual disability v3.963 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Severe Paediatric Disorders v1.61 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia, type 10, 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Severe Paediatric Disorders v1.60 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Intellectual disability v3.962 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
DDG2P v2.19 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
DDG2P v2.18 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Cerebellar hypoplasia v1.43 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia type 10; Pontocerebellar HypoplasiaPontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Cerebellar hypoplasia v1.42 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia type 10; Pontocerebellar Hypoplasia to Pontocerebellar Hypoplasia type 10; Pontocerebellar HypoplasiaPontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Fetal anomalies v1.628 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Ataxia and cerebellar anomalies - narrow panel v2.46 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803 to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Cerebellar hypoplasia v1.41 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Hereditary ataxia v1.208 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Ataxia and cerebellar anomalies - narrow panel v2.45 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Hereditary ataxia - adult onset v2.23 CLP1 Sarah Leigh changed review comment from: Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single Founder variant has been reported, in patients.; to: Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single (founder) variant has been reported, in patients.
Hereditary ataxia - adult onset v2.23 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803 to Pontocerebellar hypoplasia type 10 OMIM:615803
Ataxia and cerebellar anomalies - narrow panel v2.45 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 (#615803); Pontocerebellar Hypoplasia type 10 to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803
Ataxia and cerebellar anomalies - narrow panel v2.44 CLP1 Sarah Leigh Publications for gene: CLP1 were set to PMID: 24766810
Hereditary ataxia - adult onset v2.22 CLP1 Sarah Leigh Publications for gene: CLP1 were set to
Hereditary ataxia - adult onset v2.21 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Hereditary ataxia - adult onset v2.21 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia - adult onset v2.21 CLP1 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CLP1.
Genetic epilepsy syndromes v2.300 SLC7A6OS Sarah Leigh Classified gene: SLC7A6OS as Red List (low evidence)
Genetic epilepsy syndromes v2.300 SLC7A6OS Sarah Leigh Added comment: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104).
Genetic epilepsy syndromes v2.300 SLC7A6OS Sarah Leigh Gene: slc7a6os has been classified as Red List (Low Evidence).
Genetic epilepsy syndromes v2.299 SLC7A6OS Sarah Leigh Publications for gene: SLC7A6OS were set to 33085104
Genetic epilepsy syndromes v2.298 SLC7A6OS Sarah Leigh Tag founder-effect tag was added to gene: SLC7A6OS.
Mitochondrial disorders v2.19 NFS1 Sarah Leigh edited their review of gene: NFS1: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.; Changed rating: GREEN
Mitochondrial disorders v2.19 NFS1 Sarah Leigh Tag Q2_21_rating tag was added to gene: NFS1.
Mitochondrial disorders v2.19 NFS1 Sarah Leigh Added comment: Comment on phenotypes: PMID: 24498631 describes the phenotype as "infantile mitochondrial complex II/III deficiency"
Mitochondrial disorders v2.19 NFS1 Sarah Leigh Phenotypes for gene: NFS1 were changed from No OMIM phenotype to No OMIM phenotype
Mitochondrial disorders v2.18 NFS1 Sarah Leigh Classified gene: NFS1 as Amber List (moderate evidence)
Mitochondrial disorders v2.18 NFS1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.18 NFS1 Sarah Leigh Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.17 NFS1 Sarah Leigh Publications for gene: NFS1 were set to 24498631; 33457206
Mitochondrial disorders v2.16 NFS1 Sarah Leigh Publications for gene: NFS1 were set to 24498631
Retinal disorders v2.164 TUBB4B Ivone Leong Tag Q2_21_rating tag was added to gene: TUBB4B.
Retinal disorders v2.164 TUBB4B Ivone Leong Classified gene: TUBB4B as Amber List (moderate evidence)
Retinal disorders v2.164 TUBB4B Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review.
Retinal disorders v2.164 TUBB4B Ivone Leong Gene: tubb4b has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Classified gene: EPAS1 as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Gene: epas1 has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.14 EPAS1 Ivone Leong gene: EPAS1 was added
gene: EPAS1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list
Q2_21_phenotype tags were added to gene: EPAS1.
Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPAS1 were set to 22931260; 23418310; 33300499
Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, OMIM:611783
Review for gene: EPAS1 was set to AMBER
Added comment: This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital). No other evidence was provided.

This gene is associated with a phenotype in OMIM. It has been reported as somatic gain of function variants in patients who present with PPGL and sporadic tumours (PMID: 22931260, 23418310).

PMID: 33300499 looked at EPAS1 germline variants in patients who has PPGL. Half of them have germline variants in EPAS1 and a known PPGL gene, other half has just EPAS1 variants. There are no details about whether these people had a family history of PPGL.
Sources: Expert list
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.13 NF1 Ivone Leong Classified gene: NF1 as Amber List (moderate evidence)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.13 NF1 Ivone Leong Gene: nf1 has been classified as Amber List (Moderate Evidence).
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.12 NF1 Ivone Leong gene: NF1 was added
gene: NF1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list
Q2_21_phenotype tags were added to gene: NF1.
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 22429592; 16735498
Phenotypes for gene: NF1 were set to NF1
Review for gene: NF1 was set to GREEN
Added comment: This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).

This gene is Green on the Inherited phaeochromocytoma and paraganglioma (Version 1.6). This gene should be reconsidered for inclusion in this panel by the GMS specialist group.
Sources: Expert list
Endocrine neoplasms v1.22 PMS2 Ivone Leong Classified gene: PMS2 as Amber List (moderate evidence)
Endocrine neoplasms v1.22 PMS2 Ivone Leong Gene: pms2 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.21 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to Endocrine neoplasms. Sources: Expert Review
Q2_21_phenotype tags were added to gene: PMS2.
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: PMS2 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert Review
Endocrine neoplasms v1.20 MSH6 Ivone Leong Classified gene: MSH6 as Amber List (moderate evidence)
Endocrine neoplasms v1.20 MSH6 Ivone Leong Gene: msh6 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.19 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: MSH6.
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: MSH6 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.18 MSH2 Ivone Leong Classified gene: MSH2 as Amber List (moderate evidence)
Endocrine neoplasms v1.18 MSH2 Ivone Leong Gene: msh2 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.17 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: MSH2.
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: MSH2 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.16 MLH1 Ivone Leong Classified gene: MLH1 as Amber List (moderate evidence)
Endocrine neoplasms v1.16 MLH1 Ivone Leong Gene: mlh1 has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.15 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: MLH1.
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: MLH1 was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.14 VHL Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.14 TP53 Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Endocrine neoplasms v1.14 PRKAR1A Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service).

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Hereditary ataxia - adult onset v2.21 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v2.43 CLP1 Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia, type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia - adult onset v2.21 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: None
Disorders of sex development v2.16 PAX8 Zornitza Stark gene: PAX8 was added
gene: PAX8 was added to Disorders of sex development. Sources: Literature
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX8 were set to 33434492
Phenotypes for gene: PAX8 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Review for gene: PAX8 was set to AMBER
Added comment: Variants in this gene are associated with congenital hypothyroidism.

5 individuals identified in large cohorts with MRKHS and likely deleterious variants in PAX8. At least one of the individuals had congenital hypothyroidism together with features of MRKHS, suggesting this is phenotype expansion. Amber rating suggested due to limited case-level data.
Sources: Literature
Leber hereditary optic neuropathy v1.7 DNAJC30 Zornitza Stark reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: 33465056; Phenotypes: Leber Hereditary Optic Neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.15 NFS1 Zornitza Stark edited their review of gene: NFS1: Added comment: PMID 33457206: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications: 24498631, 33457206; Changed phenotypes: progressive hypotonia, lactic acidosis, acute metabolic crises, liver dysfunction, increased CPK
Genetic epilepsy syndromes v2.298 SLC7A6OS Zornitza Stark gene: SLC7A6OS was added
gene: SLC7A6OS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: SLC7A6OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A6OS were set to 33085104
Phenotypes for gene: SLC7A6OS were set to Progressive myoclonus epilepsy
Review for gene: SLC7A6OS was set to RED
Added comment: Two unrelated families reported with same homozygous splice site variant, shared haplotype (founder effect). Limited functional data.
Sources: Literature
Intellectual disability v3.962 ATCAY Catherine Snow Source: Expert Review Amber was removed from gene: ATCAY
Intellectual disability v3.961 ANO3 Catherine Snow Source: Expert Review Amber was removed from gene: ANO3
Intellectual disability v3.960 ADGRV1 Catherine Snow Source: Expert Review Amber was removed from gene: ADGRV1
Intellectual disability v3.959 ABHD12 Catherine Snow Source: Expert Review Amber was removed from gene: ABHD12
Intellectual disability v3.958 CDK16 Catherine Snow Source: Expert Review Red was removed from gene: CDK16
Intellectual disability v3.957 ZC3H14 Catherine Snow Source: Expert Review Red was removed from gene: ZC3H14
Intellectual disability v3.956 XPA Catherine Snow Source: Expert Review Red was removed from gene: XPA
Intellectual disability v3.955 USP27X Catherine Snow Source: Expert Review Red was removed from gene: USP27X
Intellectual disability v3.953 TUBGCP4 Catherine Snow Source: Expert Review Red was removed from gene: TUBGCP4
Intellectual disability v3.952 TRAPPC11 Catherine Snow Source: Expert Review Red was removed from gene: TRAPPC11
CAKUT v1.160 WBP11 Eleanor Williams Classified gene: WBP11 as Green List (high evidence)
CAKUT v1.160 WBP11 Eleanor Williams Added comment: Comment on list classification: Added to the panel at the suggestion of Genomics England clinicians. Promoting from red to green based on 4 unrelated cases with a renal phenotype.
CAKUT v1.160 WBP11 Eleanor Williams Gene: wbp11 has been classified as Green List (High Evidence).
Intellectual disability v3.951 TMEM231 Catherine Snow Source: Expert Review Red was removed from gene: TMEM231
CAKUT v1.159 WBP11 Eleanor Williams changed review comment from: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature; to: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.

A renal phenotype was seen in 5/13 patients from 4 families.
Sources: Literature
Intellectual disability v3.950 SRGAP3 Catherine Snow Source: Expert Review Red was removed from gene: SRGAP3
CAKUT v1.159 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to CAKUT. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Intellectual disability v3.949 SMARCD2 Catherine Snow Source: Expert Review Red was removed from gene: SMARCD2
Intellectual disability v3.947 SACS Catherine Snow Source: Expert Review Red was removed from gene: SACS
VACTERL-like phenotypes v1.29 WBP11 Eleanor Williams Classified gene: WBP11 as Green List (high evidence)
VACTERL-like phenotypes v1.29 WBP11 Eleanor Williams Added comment: Comment on list classification: Promoting from red to green as there are 5 cases from 3 families in which patients affected had features in three component organs
VACTERL-like phenotypes v1.29 WBP11 Eleanor Williams Gene: wbp11 has been classified as Green List (High Evidence).
VACTERL-like phenotypes v1.28 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to VACTERL-like phenotypes. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Paediatric disorders - additional genes v1.84 WBP11 Eleanor Williams Classified gene: WBP11 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.84 WBP11 Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating at the next GMS review.
Paediatric disorders - additional genes v1.84 WBP11 Eleanor Williams Gene: wbp11 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.83 WBP11 Eleanor Williams Tag Q2_21_rating tag was added to gene: WBP11.
Paediatric disorders - additional genes v1.83 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Paediatric disorders - additional genes. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Skeletal dysplasia v2.83 WBP11 Eleanor Williams Tag Q2_21_rating tag was added to gene: WBP11.
Skeletal dysplasia v2.83 WBP11 Eleanor Williams Classified gene: WBP11 as Amber List (moderate evidence)
Skeletal dysplasia v2.83 WBP11 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber with recommendation for a green rating following GMS review.
Skeletal dysplasia v2.83 WBP11 Eleanor Williams Gene: wbp11 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v2.82 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.

Vertebral anomalies were noted in 6/13 patients from 5 families. One patient had congenital scoliosis and one abnormalities of the right upper ribs. Genomics England clinical team suggest it just meets the threshold for the skeletal dysplasia panel.
Sources: Literature
Fetal anomalies v1.628 WBP11 Eleanor Williams Tag Q2_21_rating tag was added to gene: WBP11.
Fetal anomalies v1.628 WBP11 Eleanor Williams Classified gene: WBP11 as Amber List (moderate evidence)
Fetal anomalies v1.628 WBP11 Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating at the next GMS review.
Fetal anomalies v1.628 WBP11 Eleanor Williams Gene: wbp11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.627 WBP11 Eleanor Williams gene: WBP11 was added
gene: WBP11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Review for gene: WBP11 was set to GREEN
Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies.
Sources: Literature
Limb disorders v2.36 FSTL5 Eleanor Williams gene: FSTL5 was added
gene: FSTL5 was added to Limb disorders. Sources: Literature
Mode of inheritance for gene: FSTL5 was set to Unknown
Publications for gene: FSTL5 were set to 33105483
Phenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus
Review for gene: FSTL5 was set to RED
Added comment: PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations. Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice.

Not sure about the phenotypic fit for the limb disorders panel but adding as red and will wait for the cases where the clinical phenotype is reported in cases with variants in FSTL5.
Sources: Literature
Hearing loss v2.149 NCOA3 Eleanor Williams gene: NCOA3 was added
gene: NCOA3 was added to Hearing loss. Sources: Literature
Mode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCOA3 were set to 33326993
Phenotypes for gene: NCOA3 were set to non-syndromic hearing loss
Review for gene: NCOA3 was set to RED
Added comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity.
Sources: Literature
Intellectual disability v3.946 RAX Catherine Snow Source: Expert Review Red was removed from gene: RAX
Intellectual disability v3.945 WT1 Arina Puzriakova Source: Expert Review Amber was removed from gene: WT1
Intellectual disability v3.944 NUP62 Catherine Snow Source: Expert Review Red was removed from gene: NUP62
Intellectual disability v3.943 NDUFAF2 Catherine Snow Source: Expert Review Red was removed from gene: NDUFAF2
Intellectual disability v3.942 MIR17HG Catherine Snow Source: Expert Review Red was removed from gene: MIR17HG
Intellectual disability v3.941 VPS35 Arina Puzriakova Source: Expert Review Amber was removed from gene: VPS35
Intellectual disability v3.940 TTPA Arina Puzriakova Source: Expert Review Amber was removed from gene: TTPA
Intellectual disability v3.939 MAPK10 Catherine Snow Source: Expert Review Red was removed from gene: MAPK10
Intellectual disability v3.938 TTC7A Arina Puzriakova Source: Expert Review Amber was removed from gene: TTC7A
Intellectual disability v3.937 TTBK2 Arina Puzriakova Source: Expert Review Amber was removed from gene: TTBK2
Intellectual disability v3.936 KLHL15 Catherine Snow Source: Expert Review Red was removed from gene: KLHL15
Intellectual disability v3.935 HAX1 Catherine Snow Source: Expert Review Red was removed from gene: HAX1
Intellectual disability v3.934 TGM6 Arina Puzriakova Source: Expert Review Amber was removed from gene: TGM6
Intellectual disability v3.933 TFG Arina Puzriakova Source: Expert Review Amber was removed from gene: TFG
Intellectual disability v3.932 TFAP2B Arina Puzriakova Source: Expert Review Amber was removed from gene: TFAP2B
Intellectual disability v3.931 TFAP2A Arina Puzriakova Source: Expert Review Amber was removed from gene: TFAP2A
Intellectual disability v3.930 TBP Arina Puzriakova Source: Expert Review Amber was removed from gene: TBP
Intellectual disability v3.929 TARDBP Arina Puzriakova Source: Expert Review Amber was removed from gene: TARDBP
Intellectual disability v3.928 STUB1 Arina Puzriakova Source: Expert Review Amber was removed from gene: STUB1
Intellectual disability v3.927 PLEC Sarah Leigh Source: Expert Review Amber was removed from gene: PLEC
Intellectual disability v3.926 SPG7 Arina Puzriakova Source: Expert Review Amber was removed from gene: SPG7
Intellectual disability v3.926 PLCE1 Sarah Leigh Source: Expert Review Amber was removed from gene: PLCE1
Intellectual disability v3.925 SPG21 Arina Puzriakova Source: Expert Review Amber was removed from gene: SPG21
Intellectual disability v3.924 PINK1 Sarah Leigh Source: Expert Review Amber was removed from gene: PINK1
Intellectual disability v3.923 SNCA Arina Puzriakova Source: Expert Review Amber was removed from gene: SNCA
Intellectual disability v3.922 PDYN Sarah Leigh Source: Expert Review Amber was removed from gene: PDYN
Intellectual disability v3.922 SMO Arina Puzriakova Source: Expert Review Amber was removed from gene: SMO
Intellectual disability v3.922 PDGFB Sarah Leigh Source: Expert Review Amber was removed from gene: PDGFB
Intellectual disability v3.921 PCYT1A Sarah Leigh Source: Expert Review Amber was removed from gene: PCYT1A
Intellectual disability v3.921 SLC20A2 Arina Puzriakova Source: Expert Review Amber was removed from gene: SLC20A2
Intellectual disability v3.920 PARK7 Sarah Leigh Source: Expert Review Amber was removed from gene: PARK7
Intellectual disability v3.919 SIGMAR1 Arina Puzriakova Source: Expert Review Amber was removed from gene: SIGMAR1
Intellectual disability v3.919 PALB2 Sarah Leigh Source: Expert Review Amber was removed from gene: PALB2
Intellectual disability v3.918 NPHS2 Sarah Leigh Source: Expert Review Amber was removed from gene: NPHS2
Intellectual disability v3.917 NOP56 Sarah Leigh Source: Expert Review Amber was removed from gene: NOP56
Intellectual disability v3.916 SH3TC2 Arina Puzriakova Source: Expert Review Amber was removed from gene: SH3TC2
Intellectual disability v3.915 SGCE Arina Puzriakova Source: Expert Review Amber was removed from gene: SGCE
Intellectual disability v3.914 NIPA1 Sarah Leigh Source: Expert Review Amber was removed from gene: NIPA1
Intellectual disability v3.913 SETX Arina Puzriakova Source: Expert Review Amber was removed from gene: SETX
Intellectual disability v3.912 NHLRC1 Sarah Leigh Source: Expert Review Amber was removed from gene: NHLRC1
Intellectual disability v3.911 SCN9A Arina Puzriakova Source: Expert Review Amber was removed from gene: SCN9A
Intellectual disability v3.911 NHEJ1 Sarah Leigh Source: Expert Review Amber was removed from gene: NHEJ1
Intellectual disability v3.910 SCARB2 Arina Puzriakova Source: Expert Review Amber was removed from gene: SCARB2
Intellectual disability v3.909 NEFL Sarah Leigh Source: Expert Review Amber was removed from gene: NEFL
Intellectual disability v3.908 SBF2 Arina Puzriakova Source: Expert Review Amber was removed from gene: SBF2
Intellectual disability v3.908 NDRG1 Sarah Leigh Source: Expert Review Amber was removed from gene: NDRG1
Intellectual disability v3.907 MTPAP Sarah Leigh Source: Expert Review Amber was removed from gene: MTPAP
Intellectual disability v3.906 RTN2 Arina Puzriakova Source: Expert Review Amber was removed from gene: RTN2
Intellectual disability v3.906 MTMR2 Sarah Leigh Source: Expert Review Amber was removed from gene: MTMR2
Intellectual disability v3.905 RNF216 Arina Puzriakova Source: Expert Review Amber was removed from gene: RNF216
Intellectual disability v3.904 RIPK4 Arina Puzriakova Source: Expert Review Amber was removed from gene: RIPK4
Intellectual disability v3.903 RFX6 Arina Puzriakova Source: Expert Review Amber was removed from gene: RFX6
Intellectual disability v3.902 REEP2 Arina Puzriakova Source: Expert Review Amber was removed from gene: REEP2
Intellectual disability v3.901 REEP1 Arina Puzriakova Source: Expert Review Amber was removed from gene: REEP1
Intellectual disability v3.900 MPZ Sarah Leigh Source: Expert Review Amber was removed from gene: MPZ
Intellectual disability v3.899 PSEN1 Arina Puzriakova Source: Expert Review Amber was removed from gene: PSEN1
Intellectual disability v3.899 MMP21 Sarah Leigh Source: Expert Review Amber was removed from gene: MMP21
Intellectual disability v3.898 MITF Sarah Leigh Source: Expert Review Amber was removed from gene: MITF
Intellectual disability v3.897 PRX Arina Puzriakova Source: Expert Review Amber was removed from gene: PRX
Intellectual disability v3.896 MECR Sarah Leigh Source: Expert Review Amber was removed from gene: MECR
Intellectual disability v3.895 MARS2 Sarah Leigh Source: Expert Review Amber was removed from gene: MARS2
Intellectual disability v3.894 PRKRA Arina Puzriakova Source: Expert Review Amber was removed from gene: PRKRA
Intellectual disability v3.894 MAFB Sarah Leigh Source: Expert Review Amber was removed from gene: MAFB
Intellectual disability v3.893 LRRK2 Sarah Leigh Source: Expert Review Amber was removed from gene: LRRK2
Intellectual disability v3.893 PRKN Arina Puzriakova Source: Expert Review Amber was removed from gene: PRKN
Intellectual disability v3.893 LOXHD1 Sarah Leigh Source: Expert Review Amber was removed from gene: LOXHD1
Intellectual disability v3.892 PRKCG Arina Puzriakova Source: Expert Review Amber was removed from gene: PRKCG
Intellectual disability v3.892 LITAF Sarah Leigh Source: Expert Review Amber was removed from gene: LITAF
Intellectual disability v3.891 PRICKLE2 Arina Puzriakova Source: Expert Review Amber was removed from gene: PRICKLE2
Intellectual disability v3.891 KIF1C Sarah Leigh Source: Expert Review Amber was removed from gene: KIF1C
Intellectual disability v3.890 KCNE1 Sarah Leigh Source: Expert Review Amber was removed from gene: KCNE1
Intellectual disability v3.889 PRICKLE1 Arina Puzriakova Source: Expert Review Amber was removed from gene: PRICKLE1
Intellectual disability v3.889 KCNA1 Sarah Leigh Source: Expert Review Amber was removed from gene: KCNA1
Intellectual disability v3.888 ITGA3 Sarah Leigh Source: Expert Review Amber was removed from gene: ITGA3
Intellectual disability v3.887 PPP2R2B Arina Puzriakova Source: Expert Review Amber was removed from gene: PPP2R2B
Intellectual disability v3.886 IGHMBP2 Sarah Leigh Source: Expert Review Amber was removed from gene: IGHMBP2
Intellectual disability v3.885 PNKD Arina Puzriakova Source: Expert Review Amber was removed from gene: PNKD
Intellectual disability v3.884 DCTN1 Sarah Leigh Source: Expert Review Amber was removed from gene: DCTN1
Unexplained paediatric onset end-stage renal disease v1.15 OCRL Arina Puzriakova Source: Expert Review Red was removed from gene: OCRL
Intellectual disability v3.883 DHODH Sarah Leigh Source: Expert Review Amber was removed from gene: DHODH
Unexplained paediatric onset end-stage renal disease v1.14 BSND Arina Puzriakova Source: Expert Review Red was removed from gene: BSND
Intellectual disability v3.882 DNM2 Sarah Leigh Source: Expert Review Amber was removed from gene: DNM2
Intellectual disability v3.881 EFHC1 Sarah Leigh Source: Expert Review Amber was removed from gene: EFHC1
Undiagnosed metabolic disorders v1.447 CD320 Arina Puzriakova Source: Expert Review Amber was removed from gene: CD320
Undiagnosed metabolic disorders v1.446 SLC36A2 Arina Puzriakova Source: Expert Review Amber was removed from gene: SLC36A2
Sarcoma susceptibility v1.11 EXT2 Arina Puzriakova Source: Expert Review Amber was removed from gene: EXT2
Intellectual disability v3.880 EIF4G1 Sarah Leigh Source: Expert Review Amber was removed from gene: EIF4G1
Intellectual disability v3.879 ELOVL5 Sarah Leigh Source: Expert Review Amber was removed from gene: ELOVL5
Intellectual disability v3.878 EPM2A Sarah Leigh Source: Expert Review Amber was removed from gene: EPM2A
Intellectual disability v3.877 FAM111B Sarah Leigh Source: Expert Review Amber was removed from gene: FAM111B
Intellectual disability v3.876 GDAP1 Sarah Leigh Source: Expert Review Amber was removed from gene: GDAP1
Intellectual disability v3.875 GNAL Sarah Leigh Source: Expert Review Amber was removed from gene: GNAL
Intellectual disability v3.874 GORAB Sarah Leigh Source: Expert Review Amber was removed from gene: GORAB
Intellectual disability v3.873 GOSR2 Sarah Leigh Source: Expert Review Amber was removed from gene: GOSR2
Intellectual disability v3.872 GRN Sarah Leigh Source: Expert Review Amber was removed from gene: GRN
Intellectual disability v3.871 MDH2 Ivone Leong Source: Expert Review Amber was removed from gene: MDH2
Intellectual disability v3.870 KNL1 Ivone Leong Source: Expert Review Amber was removed from gene: KNL1
Intellectual disability v3.869 KIAA0586 Ivone Leong Source: Expert Review Amber was removed from gene: KIAA0586
Intellectual disability v3.868 HECW2 Ivone Leong commented on gene: HECW2
Intellectual disability v3.868 HECW2 Ivone Leong Phenotypes for gene: HECW2 were changed from Neurodevelopmental disorder with hypotonia, seizures, and absent language to Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268
Intellectual disability v3.867 HECW2 Ivone Leong Mode of pathogenicity for gene: HECW2 was changed from to Other
Intellectual disability v3.866 HECW2 Ivone Leong Publications for gene: HECW2 were set to
Intellectual disability v3.865 HECW2 Ivone Leong gene: HECW2 was added
gene: HECW2 was added to Intellectual disability. Sources: Expert Review Green,BRIDGE study SPEED NEURO Tier1 Gene,Victorian Clinical Genetics Services
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HECW2 were set to Neurodevelopmental disorder with hypotonia, seizures, and absent language
Intellectual disability v3.864 IFT140 Sarah Leigh Source: Expert Review Amber was removed from gene: IFT140
Intellectual disability v3.863 FLAD1 Sarah Leigh Source: Expert Review Amber was removed from gene: FLAD1
Intellectual disability v3.862 DNMT1 Sarah Leigh Source: Expert Review Amber was removed from gene: DNMT1
Intellectual disability v3.861 Ivone Leong removed gene:HECW2 from the panel
Intellectual disability v3.860 HACE1 Ivone Leong Source: Expert Review Amber was removed from gene: HACE1
Intellectual disability v3.859 GRID2 Ivone Leong Source: Expert Review Amber was removed from gene: GRID2
Intellectual disability v3.858 GLIS3 Ivone Leong Source: Expert Review Amber was removed from gene: GLIS3
Intellectual disability v3.857 FGF12 Ivone Leong Source: Expert Review Amber was removed from gene: FGF12
Intellectual disability v3.857 GJB1 Catherine Snow Source: Expert Review Red was removed from gene: GJB1
Intellectual disability v3.856 EBF3 Ivone Leong Source: Expert Review Amber was removed from gene: EBF3
Intellectual disability v3.855 CHD4 Ivone Leong Source: Expert Review Amber was removed from gene: CHD4
Intellectual disability v3.854 BRPF1 Ivone Leong Source: Expert Review Amber was removed from gene: BRPF1
Intellectual disability v3.854 GBA2 Catherine Snow Source: Expert Review Red was removed from gene: GBA2
Intellectual disability v3.853 BMP4 Ivone Leong Source: Expert Review Amber was removed from gene: BMP4
Intellectual disability v3.852 ACADS Ivone Leong Source: Expert Review Amber was removed from gene: ACADS
Intellectual disability v3.851 AAAS Ivone Leong Source: Expert Review Amber was removed from gene: AAAS
Intellectual disability v3.851 FRAS1 Catherine Snow Source: Expert Review Red was removed from gene: FRAS1
Intellectual disability v3.850 FAM120C Catherine Snow Source: Expert Review Red was removed from gene: FAM120C
Intellectual disability v3.850 MBTPS2 Ivone Leong Source: Expert Review Red was removed from gene: MBTPS2
Intellectual disability v3.850 CSF1R Sarah Leigh Source: Expert Review Amber was removed from gene: CSF1R
Intellectual disability v3.849 FAAH2 Catherine Snow Source: Expert Review Red was removed from gene: FAAH2
Inborn errors of metabolism v2.101 IDH3B Eleanor Williams Source: Expert Review Amber was removed from gene: IDH3B
Intellectual disability v3.849 UBTF Ivone Leong Source: Expert Review Red was removed from gene: UBTF
Intellectual disability v3.848 ERMARD Catherine Snow Source: Expert Review Red was removed from gene: ERMARD
Intellectual disability v3.847 THOC2 Ivone Leong Source: Expert Review Red was removed from gene: THOC2
Intellectual disability v3.847 CRYGC Sarah Leigh Source: Expert Review Amber was removed from gene: CRYGC
Inborn errors of metabolism v2.100 SDHB Eleanor Williams Source: Expert Review Amber was removed from gene: SDHB
Intellectual disability v3.846 TECPR2 Ivone Leong Source: Expert Review Red was removed from gene: TECPR2
Intellectual disability v3.845 EPB41L1 Catherine Snow Source: Expert Review Red was removed from gene: EPB41L1
Inborn errors of metabolism v2.99 TANGO2 Eleanor Williams Source: Expert Review Red was removed from gene: TANGO2
Intellectual disability v3.844 TAF1 Ivone Leong Source: Expert Review Red was removed from gene: TAF1
Intellectual disability v3.843 EEF1B2 Catherine Snow Source: Expert Review Red was removed from gene: EEF1B2
Inborn errors of metabolism v2.98 SLC52A3 Eleanor Williams Source: Expert Review Red was removed from gene: SLC52A3
Intellectual disability v3.843 SZT2 Ivone Leong Source: Expert Review Red was removed from gene: SZT2
Inborn errors of metabolism v2.97 SLC52A2 Eleanor Williams Source: Expert Review Red was removed from gene: SLC52A2
Intellectual disability v3.842 DPM3 Catherine Snow Source: Expert Review Red was removed from gene: DPM3
Intellectual disability v3.842 ST3GAL5 Ivone Leong Source: Expert Review Red was removed from gene: ST3GAL5
Inborn errors of metabolism v2.96 SLC25A22 Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A22
Intellectual disability v3.841 DLG2 Catherine Snow Source: Expert Review Red was removed from gene: DLG2
Intellectual disability v3.840 SMC3 Ivone Leong Source: Expert Review Red was removed from gene: SMC3
Inborn errors of metabolism v2.95 SLC25A20 Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A20
Intellectual disability v3.840 DLG1 Catherine Snow Source: Expert Review Red was removed from gene: DLG1
Intellectual disability v3.839 SMAD4 Ivone Leong Source: Expert Review Red was removed from gene: SMAD4
Inborn errors of metabolism v2.94 SLC22A5 Eleanor Williams Source: Expert Review Red was removed from gene: SLC22A5
Intellectual disability v3.838 DIP2B Catherine Snow Source: Expert Review Red was removed from gene: DIP2B
Intellectual disability v3.838 SLC33A1 Ivone Leong Source: Expert Review Red was removed from gene: SLC33A1
Intellectual disability v3.837 DDX53 Catherine Snow Source: Expert Review Red was removed from gene: DDX53
Inborn errors of metabolism v2.93 SAMHD1 Eleanor Williams Source: Expert Review Red was removed from gene: SAMHD1
Intellectual disability v3.836 SERAC1 Ivone Leong Source: Expert Review Red was removed from gene: SERAC1
Intellectual disability v3.835 RTTN Ivone Leong Source: Expert Review Red was removed from gene: RTTN
Inborn errors of metabolism v2.92 PYCR1 Eleanor Williams Source: Expert Review Red was removed from gene: PYCR1
Intellectual disability v3.834 CYP7B1 Catherine Snow Source: Expert Review Red was removed from gene: CYP7B1
Intellectual disability v3.834 RLIM Ivone Leong Source: Expert Review Red was removed from gene: RLIM
Inborn errors of metabolism v2.91 PPOX Eleanor Williams Source: Expert Review Red was removed from gene: PPOX
Intellectual disability v3.833 QARS Ivone Leong Source: Expert Review Red was removed from gene: QARS
Intellectual disability v3.833 CHL1 Catherine Snow Source: Expert Review Red was removed from gene: CHL1
Inborn errors of metabolism v2.90 OXCT1 Eleanor Williams Source: Expert Review Red was removed from gene: OXCT1
Intellectual disability v3.832 PYCR2 Ivone Leong Source: Expert Review Red was removed from gene: PYCR2
Intellectual disability v3.831 CEP63 Catherine Snow Source: Expert Review Red was removed from gene: CEP63
Inborn errors of metabolism v2.89 L2HGDH Eleanor Williams Source: Expert Review Red was removed from gene: L2HGDH
Intellectual disability v3.831 PYCR1 Ivone Leong Source: Expert Review Red was removed from gene: PYCR1
Intellectual disability v3.830 CD96 Catherine Snow Source: Expert Review Red was removed from gene: CD96
Inborn errors of metabolism v2.88 IER3IP1 Eleanor Williams Source: Expert Review Red was removed from gene: IER3IP1
Intellectual disability v3.829 PUS1 Ivone Leong Source: Expert Review Red was removed from gene: PUS1
Inborn errors of metabolism v2.87 HMGCS2 Eleanor Williams Source: Expert Review Red was removed from gene: HMGCS2
Intellectual disability v3.828 C9orf72 Catherine Snow Source: Expert Review Amber was removed from gene: C9orf72
Intellectual disability v3.828 PUF60 Ivone Leong Source: Expert Review Red was removed from gene: PUF60
Inborn errors of metabolism v2.86 HMGCL Eleanor Williams Source: Expert Review Red was removed from gene: HMGCL
Intellectual disability v3.827 PEX11B Ivone Leong Source: Expert Review Red was removed from gene: PEX11B
Inborn errors of metabolism v2.85 HADHB Eleanor Williams Source: Expert Review Red was removed from gene: HADHB
Intellectual disability v3.827 BEAN1 Catherine Snow Source: Expert Review Amber was removed from gene: BEAN1
Inborn errors of metabolism v2.84 HADHA Eleanor Williams Source: Expert Review Red was removed from gene: HADHA
Intellectual disability v3.826 NTRK1 Ivone Leong Source: Expert Review Red was removed from gene: NTRK1
Inborn errors of metabolism v2.83 GLUD1 Eleanor Williams Source: Expert Review Red was removed from gene: GLUD1
Intellectual disability v3.826 CRYBA4 Sarah Leigh Source: Expert Review Amber was removed from gene: CRYBA4
Intellectual disability v3.825 NFIA Ivone Leong Source: Expert Review Red was removed from gene: NFIA
Inborn errors of metabolism v2.82 GATM Eleanor Williams Source: Expert Review Red was removed from gene: GATM
Intellectual disability v3.824 ATXN7 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN7
Inborn errors of metabolism v2.81 ETFB Eleanor Williams Source: Expert Review Red was removed from gene: ETFB
Intellectual disability v3.823 ATXN3 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN3
Inborn errors of metabolism v2.80 ETFA Eleanor Williams Source: Expert Review Red was removed from gene: ETFA
Intellectual disability v3.822 ATXN2 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN2
Inborn errors of metabolism v2.79 DHTKD1 Eleanor Williams Source: Expert Review Red was removed from gene: DHTKD1
Inborn errors of metabolism v2.78 DARS Eleanor Williams Source: Expert Review Red was removed from gene: DARS
Intellectual disability v3.821 ATXN10 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN10
Intellectual disability v3.820 ATXN1 Catherine Snow Source: Expert Review Amber was removed from gene: ATXN1
Inborn errors of metabolism v2.77 D2HGDH Eleanor Williams Source: Expert Review Red was removed from gene: D2HGDH
Inborn errors of metabolism v2.76 CPT2 Eleanor Williams Source: Expert Review Red was removed from gene: CPT2
Intellectual disability v3.819 NDST1 Ivone Leong Source: Expert Review Red was removed from gene: NDST1
Inborn errors of metabolism v2.75 CPT1A Eleanor Williams Source: Expert Review Red was removed from gene: CPT1A
Intellectual disability v3.817 UNC80 Catherine Snow Source: Expert Review Amber was removed from gene: UNC80
Intellectual disability v3.816 LONP1 Ivone Leong Source: Expert Review Red was removed from gene: LONP1
Inborn errors of metabolism v2.74 CHKB Eleanor Williams Source: Expert Review Red was removed from gene: CHKB
Intellectual disability v3.815 KMT2C Ivone Leong Source: Expert Review Red was removed from gene: KMT2C
Intellectual disability v3.815 UBA5 Catherine Snow Source: Expert Review Amber was removed from gene: UBA5
Inborn errors of metabolism v2.73 C19orf12 Eleanor Williams Source: Expert Review Red was removed from gene: C19orf12
Intellectual disability v3.814 CDC45 Sarah Leigh Source: Expert Review Amber was removed from gene: CDC45
Inborn errors of metabolism v2.72 ACAT1 Eleanor Williams Source: Expert Review Red was removed from gene: ACAT1
Intellectual disability v3.813 IER3IP1 Ivone Leong Source: Expert Review Red was removed from gene: IER3IP1
Intellectual disability v3.812 TRMT10A Catherine Snow Source: Expert Review Amber was removed from gene: TRMT10A
Intellectual disability v3.812 HIVEP2 Ivone Leong Source: Expert Review Red was removed from gene: HIVEP2
Inborn errors of metabolism v2.71 ACADVL Eleanor Williams Source: Expert Review Red was removed from gene: ACADVL
Intellectual disability v3.811 TMEM240 Catherine Snow Source: Expert Review Amber was removed from gene: TMEM240
Intellectual disability v3.810 GMPPB Ivone Leong Source: Expert Review Red was removed from gene: GMPPB
Intellectual disability v3.810 TBCD Catherine Snow Source: Expert Review Amber was removed from gene: TBCD
Inborn errors of metabolism v2.70 ACADSB Eleanor Williams Source: Expert Review Red was removed from gene: ACADSB
Intellectual disability v3.809 GFER Ivone Leong Source: Expert Review Red was removed from gene: GFER
Intellectual disability v3.808 EMX2 Ivone Leong Source: Expert Review Red was removed from gene: EMX2
Inborn errors of metabolism v2.69 ACADS Eleanor Williams Source: Expert Review Red was removed from gene: ACADS
Intellectual disability v3.808 SPTBN2 Catherine Snow Source: Expert Review Amber was removed from gene: SPTBN2
Intellectual disability v3.807 ELP2 Ivone Leong Source: Expert Review Red was removed from gene: ELP2
Familial diabetes v1.58 STAT1 Eleanor Williams Source: Expert Review Removed was removed from gene: STAT1
Intellectual disability v3.806 DNAJC19 Ivone Leong Source: Expert Review Red was removed from gene: DNAJC19
Inborn errors of metabolism v2.68 ACADM Eleanor Williams Source: Expert Review Red was removed from gene: ACADM
Intellectual disability v3.805 DAG1 Ivone Leong Source: Expert Review Red was removed from gene: DAG1
Familial diabetes v1.57 IL2RA Eleanor Williams Source: Expert Review Removed was removed from gene: IL2RA
Intellectual disability v3.803 CRADD Ivone Leong Source: Expert Review Red was removed from gene: CRADD
Intellectual disability v3.803 SPART Catherine Snow Source: Expert Review Amber was removed from gene: SPART
Familial diabetes v1.56 PAX4 Eleanor Williams Source: Expert Review Removed was removed from gene: PAX4
Familial diabetes v1.55 LIPC Eleanor Williams Source: Expert Review Removed was removed from gene: LIPC
Intellectual disability v3.802 COG5 Ivone Leong Source: Expert Review Red was removed from gene: COG5
Familial diabetes v1.54 KLF11 Eleanor Williams Source: Expert Review Removed was removed from gene: KLF11
Intellectual disability v3.801 SON Catherine Snow Source: Expert Review Amber was removed from gene: SON
Familial diabetes v1.53 BLK Eleanor Williams Source: Expert Review Removed was removed from gene: BLK
Intellectual disability v3.801 CLCN4 Ivone Leong Source: Expert Review Red was removed from gene: CLCN4
Familial diabetes v1.52 LRBA Eleanor Williams Source: Expert Review Removed was removed from gene: LRBA
Familial diabetes v1.51 BSCL2 Eleanor Williams Source: Expert Review Removed was removed from gene: BSCL2
Intellectual disability v3.800 CHMP1A Ivone Leong Source: Expert Review Red was removed from gene: CHMP1A
Intellectual disability v3.800 CCDC115 Sarah Leigh Source: Expert Review Amber was removed from gene: CCDC115
Familial diabetes v1.50 AGPAT2 Eleanor Williams Source: Expert Review Removed was removed from gene: AGPAT2
Familial diabetes v1.49 STAT3 Eleanor Williams Source: Expert Review Removed was removed from gene: STAT3
Familial diabetes v1.48 SLC2A2 Eleanor Williams Source: Expert Review Removed was removed from gene: SLC2A2
Intellectual disability v3.798 CAMK2A Ivone Leong Source: Expert Review Red was removed from gene: CAMK2A
Intellectual disability v3.798 PRUNE1 Catherine Snow Source: Expert Review Amber was removed from gene: PRUNE1
Familial diabetes v1.47 SLC19A2 Eleanor Williams Source: Expert Review Removed was removed from gene: SLC19A2
Intellectual disability v3.797 CACNA1S Sarah Leigh Source: Expert Review Amber was removed from gene: CACNA1S
Intellectual disability v3.797 CACNA1D Ivone Leong Source: Expert Review Red was removed from gene: CACNA1D
Familial diabetes v1.46 PTF1A Eleanor Williams Source: Expert Review Removed was removed from gene: PTF1A
Intellectual disability v3.796 CACNA1A Ivone Leong Source: Expert Review Red was removed from gene: CACNA1A
Intellectual disability v3.795 PGAP1 Catherine Snow Source: Expert Review Amber was removed from gene: PGAP1
Intellectual disability v3.795 BRCA2 Sarah Leigh Source: Expert Review Amber was removed from gene: BRCA2
Intellectual disability v3.794 BSCL2 Ivone Leong Source: Expert Review Red was removed from gene: BSCL2
Familial diabetes v1.45 NEUROG3 Eleanor Williams Source: Expert Review Removed was removed from gene: NEUROG3
Familial diabetes v1.44 MNX1 Eleanor Williams Source: Expert Review Removed was removed from gene: MNX1
Familial diabetes v1.43 IER3IP1 Eleanor Williams Source: Expert Review Removed was removed from gene: IER3IP1
Intellectual disability v3.792 PNPLA6 Catherine Snow Source: Expert Review Amber was removed from gene: PNPLA6
Familial diabetes v1.42 GLIS3 Eleanor Williams Source: Expert Review Removed was removed from gene: GLIS3
Sarcoma susceptibility v1.8 NF1 Arina Puzriakova Source: Expert Review Amber was removed from gene: NF1
Familial diabetes v1.41 FOXP3 Eleanor Williams Source: Expert Review Removed was removed from gene: FOXP3
Intellectual disability v3.791 ATP6V0A2 Ivone Leong Source: Expert Review Red was removed from gene: ATP6V0A2
Sarcoma susceptibility v1.6 PDGFRA Arina Puzriakova Source: Expert Review Green was removed from gene: PDGFRA
Familial diabetes v1.40 EIF2AK3 Eleanor Williams Source: Expert Review Removed was removed from gene: EIF2AK3
Intellectual disability v3.790 PDE4D Catherine Snow Source: Expert Review Amber was removed from gene: PDE4D
Intellectual disability v3.789 ASL Ivone Leong Source: Expert Review Red was removed from gene: ASL
COVID-19 research v1.76 FCGR3A Eleanor Williams Source: Expert Review Amber was removed from gene: FCGR3A
Intellectual disability v3.789 ATP7B Sarah Leigh Source: Expert Review Amber was removed from gene: ATP7B
COVID-19 research v1.75 TRAF3 Eleanor Williams Source: Expert Review Red was removed from gene: TRAF3
Intellectual disability v3.787 PARN Catherine Snow Source: Expert Review Amber was removed from gene: PARN
Intellectual disability v3.787 ARL13B Ivone Leong Source: Expert Review Red was removed from gene: ARL13B
COVID-19 research v1.74 IRF7 Eleanor Williams Source: Expert Review Amber was removed from gene: IRF7
Possible mitochondrial disorder - nuclear genes v1.37 TIMM50 Arina Puzriakova Source: Expert Review Amber was removed from gene: TIMM50
Intellectual disability v3.786 ARID2 Ivone Leong Source: Expert Review Red was removed from gene: ARID2
Cholestasis v1.81 BCS1L Eleanor Williams Source: Expert Review Amber was removed from gene: BCS1L
Possible mitochondrial disorder - nuclear genes v1.36 IER3IP1 Arina Puzriakova Source: Expert Review Green was removed from gene: IER3IP1
Intellectual disability v3.785 OPA3 Catherine Snow Source: Expert Review Amber was removed from gene: OPA3
Possible mitochondrial disorder - nuclear genes v1.35 HMGCL Arina Puzriakova Source: Expert Review Green was removed from gene: HMGCL
Intellectual disability v3.784 AP3B1 Ivone Leong Source: Expert Review Red was removed from gene: AP3B1
Cholestasis v1.80 PEX2 Eleanor Williams Source: Expert Review Green was removed from gene: PEX2
Intellectual disability v3.783 PMP22 Arina Puzriakova Source: Expert Review Amber was removed from gene: PMP22
Cholestasis v1.79 CYP7A1 Eleanor Williams Source: Expert Review Red was removed from gene: CYP7A1
Intellectual disability v3.782 ADK Ivone Leong Source: Expert Review Red was removed from gene: ADK
Mitochondrial disorders v2.15 SLC44A1 Arina Puzriakova Mode of inheritance for gene: SLC44A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v2.43 SLC44A1 Arina Puzriakova Phenotypes for gene: SLC44A1 were changed from progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria to Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868; Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028
Intellectual disability v3.781 CCDC186 Sarah Leigh Classified gene: CCDC186 as Amber List (moderate evidence)
Intellectual disability v3.781 CCDC186 Sarah Leigh Gene: ccdc186 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.780 CCDC186 Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in unrelated cases.
Sources: Literature; to: Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay.
Sources: Literature
Growth failure in early childhood v1.58 CCDC186 Sarah Leigh Classified gene: CCDC186 as Amber List (moderate evidence)
Growth failure in early childhood v1.58 CCDC186 Sarah Leigh Gene: ccdc186 has been classified as Amber List (Moderate Evidence).
Growth failure in early childhood v1.57 CCDC186 Sarah Leigh gene: CCDC186 was added
gene: CCDC186 was added to Growth failure in early childhood. Sources: Literature
watchlist tags were added to gene: CCDC186.
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146; 28600779
Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay
Review for gene: CCDC186 was set to AMBER
Added comment: Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay.
Sources: Literature
Intellectual disability v3.780 CCDC186 Sarah Leigh gene: CCDC186 was added
gene: CCDC186 was added to Intellectual disability. Sources: Literature
watchlist tags were added to gene: CCDC186.
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146; 28600779
Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay
Review for gene: CCDC186 was set to AMBER
Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in unrelated cases.
Sources: Literature
Genetic epilepsy syndromes v2.298 CCDC186 Sarah Leigh Tag watchlist tag was added to gene: CCDC186.
Genetic epilepsy syndromes v2.298 CCDC186 Sarah Leigh Classified gene: CCDC186 as Red List (low evidence)
Genetic epilepsy syndromes v2.298 CCDC186 Sarah Leigh Added comment: Comment on list classification: Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay, epileptic encephalopathy was rerported in one case (PMID33259146).
Genetic epilepsy syndromes v2.298 CCDC186 Sarah Leigh Gene: ccdc186 has been classified as Red List (Low Evidence).
Genetic epilepsy syndromes v2.297 CCDC186 Sarah Leigh Publications for gene: CCDC186 were set to 33259146
Endocrine neoplasms v1.14 PTEN Ivone Leong changed review comment from: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will be given Green status pending decision by the GMS review panel.
Sources: Expert list; to: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Endocrine neoplasms v1.14 PTEN Ivone Leong Classified gene: PTEN as Amber List (moderate evidence)
Endocrine neoplasms v1.14 PTEN Ivone Leong Gene: pten has been classified as Amber List (Moderate Evidence).
Endocrine neoplasms v1.13 PTEN Ivone Leong gene: PTEN was added
gene: PTEN was added to Endocrine neoplasms. Sources: Expert list
Q2_21_phenotype tags were added to gene: PTEN.
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: PTEN was set to AMBER
Added comment: This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will be given Green status pending decision by the GMS review panel.
Sources: Expert list
Hearing loss v2.148 PDSS1 Ivone Leong Classified gene: PDSS1 as Amber List (moderate evidence)
Hearing loss v2.148 PDSS1 Ivone Leong Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Hearing loss v2.147 PDSS1 Ivone Leong gene: PDSS1 was added
gene: PDSS1 was added to Hearing loss. Sources: Literature
watchlist tags were added to gene: PDSS1.
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023; 17332895
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, OMIM:614651
Review for gene: PDSS1 was set to AMBER
Added comment: Reviews copied from Optic neuropathy panel (Version 2.35).

"Two families reported where optic atrophy and deafness are part of the phenotype. Sources: Literature
Zornitza Stark (Australian Genomics), 1 Feb 2021"

"Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there are only 2 cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Ivone Leong (Genomics England Curator), 9 Feb 2021"
Sources: Literature
Genetic epilepsy syndromes v2.296 LMBRD2 Sarah Leigh Added comment: Comment on mode of pathogenicity: Both of the references for this entry suggest a gain-of-function action for LMBRD2 variants.
Genetic epilepsy syndromes v2.296 LMBRD2 Sarah Leigh Mode of pathogenicity for gene: LMBRD2 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 Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v3.779 LMBRD2 Sarah Leigh Added comment: Comment on mode of pathogenicity: Both of the references for this entry suggest a gain-of-function action for LMBRD2 variants.
Intellectual disability v3.779 LMBRD2 Sarah Leigh Mode of pathogenicity for gene: LMBRD2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v3.778 ADAM22 Sarah Leigh Classified gene: ADAM22 as Amber List (moderate evidence)
Intellectual disability v3.778 ADAM22 Sarah Leigh Added comment: Comment on list classification: There is just enough evidence for this gene to be rated GREEN at the next major review, which may make it a boarderline case.
Intellectual disability v3.778 ADAM22 Sarah Leigh Gene: adam22 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.295 ADAM22 Sarah Leigh changed review comment from: Comment on list classification: There is just enough evidence for this gene to be rated GREEN at the next major review, which may make it a boarderline case.; to: Comment on list classification: There is just enough evidence for this gene to be rated GREEN at the next major review, which may make it a borderline case.
Genetic epilepsy syndromes v2.295 ADAM22 Sarah Leigh Classified gene: ADAM22 as Amber List (moderate evidence)
Genetic epilepsy syndromes v2.295 ADAM22 Sarah Leigh Added comment: Comment on list classification: There is just enough evidence for this gene to be rated GREEN at the next major review, which may make it a boarderline case.
Genetic epilepsy syndromes v2.295 ADAM22 Sarah Leigh Gene: adam22 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.42 KCNN2 Arina Puzriakova Classified gene: KCNN2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v2.42 KCNN2 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update - cerebellar ataxia, with an early onset from childhood to adolescence, was reported in 4/10 individuals with distinct KCNN2 variants. Pathogenicity of variants was supported by functional data.
Ataxia and cerebellar anomalies - narrow panel v2.42 KCNN2 Arina Puzriakova Gene: kcnn2 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v2.41 KCNN2 Arina Puzriakova gene: KCNN2 was added
gene: KCNN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Q2_21_rating tags were added to gene: KCNN2.
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to Intellectual disability; seizures; movement disorder
Review for gene: KCNN2 was set to GREEN
Added comment: - PMID: 33242881 (2020) - 10 patients with de novo KCNN2 variants and one individual with a heterozygous missense variant inherited from an affected parent, detected by WES. Patch-clamp functional studies showed that all but one variant (p.Glu30Gln) tested, which was reclassified VUS, led to to a loss-of-function of SK2 channels.

Excluding the case with the VUS, one patient displayed DD, 4 patients exhibited mild ID, 3 patients had moderate ID, and 2 had severe ID. Other clinical characteristics include a movement disorder (6/10) including tremor (5), cerebellar ataxia (4), and extrapyramidal symptoms (4); epilepsy (2/10); white matter abnormalities (3/6). Authors note that the 4 individuals without a movement disorder were under the age of 16 years at the time of the study and there is a possibility that this manifestation may arise later in life.
Sources: Literature
Intellectual disability v3.777 KCNN2 Arina Puzriakova Classified gene: KCNN2 as Amber List (moderate evidence)
Intellectual disability v3.777 KCNN2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to promote this gene to Green at the next GMS panel update - variable degrees of cognitive impairment were a universal feature amongst individuals with KCNN2 variants (at least 10 unrelated cases with unique variants). Pathogenicity was supported by functional data.
Intellectual disability v3.777 KCNN2 Arina Puzriakova Gene: kcnn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.776 KCNN2 Arina Puzriakova Tag Q2_21_rating tag was added to gene: KCNN2.
Intellectual disability v3.776 KCNN2 Arina Puzriakova reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33242881; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic epilepsy syndromes v2.294 SATB1 Arina Puzriakova Classified gene: SATB1 as Amber List (moderate evidence)
Genetic epilepsy syndromes v2.294 SATB1 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to promote this gene to Green at the next major review.
Genetic epilepsy syndromes v2.294 SATB1 Arina Puzriakova Gene: satb1 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.293 SATB1 Arina Puzriakova gene: SATB1 was added
gene: SATB1 was added to Genetic epilepsy syndromes. Sources: Literature
Q2_21_rating tags were added to gene: SATB1.
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to 33513338
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorder
Review for gene: SATB1 was set to GREEN
Added comment: Currently not associated with any phenotype in OMIM (last edited: 30/09/2020) but has a 'confirmed' disease confidence rating for 'SATB1-related developmental disorder (monoallelic)' in Gene2Phenotype.

- Den Hoed et al. 2021 (PMID: 33513338) - Total of 42 individuals from 35 families with SATB1 variants (including previously reported cases) - 30 patients harboured 15 unique SATB1 missense variants, including three recurrent variants; 10 had premature protein truncating variants; and and 2 individuals carried a (partial) gene deletion. 28 variants occurred de novo, 3 were inherited from an affected parent, 5 resulted from suspected parental mosaicism (2 inherited from an unaffected parent indicating reduced penetrance), and unknown inheritance in remaining 4 variants.

Phenotypes include neurodevelopmental delay (35/36, 97%), intellectual disability (28/31, 90%), muscle tone abnormalities (abnormal tone 28/37, 76%; hypotonia 28/37, 76%; spasticity 10/36, 28%), epilepsy (22/36, 61%), facial dysmorphisms (24/36, 67%), and dental abnormalities (24/34, 71%). Variable seizure phenotypes described but multiple refractory early-onset cases.

Missense variants were associated with a more severe phenotype - for instance, 57% of individuals with a missense variant had severe/profound ID whereas this level of ID was not observed for any individuals with truncating variants.
Sources: Literature
Intellectual disability v3.776 SATB1 Arina Puzriakova Publications for gene: SATB1 were set to 33057194
Intellectual disability v3.775 SATB1 Arina Puzriakova Deleted their comment
Intellectual disability v3.775 SATB1 Arina Puzriakova Classified gene: SATB1 as Amber List (moderate evidence)
Intellectual disability v3.775 SATB1 Arina Puzriakova Added comment: Comment on list classification: There is now enough evidence to promote this gene to Green at the next major review.
Intellectual disability v3.775 SATB1 Arina Puzriakova Gene: satb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.775 SATB1 Arina Puzriakova Classified gene: SATB1 as Amber List (moderate evidence)
Intellectual disability v3.775 SATB1 Arina Puzriakova Added comment: Comment on list classification: There is now enough evidence to promote this gene to Green at the next major review.
Intellectual disability v3.775 SATB1 Arina Puzriakova Gene: satb1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.774 SATB1 Arina Puzriakova Tag watchlist was removed from gene: SATB1.
Tag Q2_21_rating tag was added to gene: SATB1.
Intellectual disability v3.774 SATB1 Arina Puzriakova reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33513338; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes v1.82 OTUD5 Arina Puzriakova Classified gene: OTUD5 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.82 OTUD5 Arina Puzriakova Added comment: Comment on list classification: This panel is relevant in view of the multiple congenital malformations associated with OTUD5 variants and therefore this gene may be promoted to Green at the next major review - at least 8 unrelated families reported with distinct hemizygous variants (PMIDs: 33131077 and 33523931).
Paediatric disorders - additional genes v1.82 OTUD5 Arina Puzriakova Gene: otud5 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.81 OTUD5 Arina Puzriakova gene: OTUD5 was added
gene: OTUD5 was added to Paediatric disorders - additional genes. Sources: Expert Review
Q2_21_rating tags were added to gene: OTUD5.
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077; 33523931
Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Review for gene: OTUD5 was set to GREEN
Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype.

- PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals.

- PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.
Sources: Expert Review
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Classified gene: OTUD5 as Amber List (moderate evidence)
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Added comment: Comment on list classification: At least 8 families reported with a multiple congenital anomaly disorder and distinct hemizygous variants in this gene (PMIDs: 33131077 and 33523931). Phenotype may conceivably be detected prenatally and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Gene: otud5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.625 OTUD5 Arina Puzriakova gene: OTUD5 was added
gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review
Q2_21_rating tags were added to gene: OTUD5.
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33131077; 33523931
Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Review for gene: OTUD5 was set to GREEN
Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype.

- PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals.

- PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.
Sources: Expert Review
Intellectual disability v3.774 OTUD5 Arina Puzriakova Classified gene: OTUD5 as Amber List (moderate evidence)
Intellectual disability v3.774 OTUD5 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to rate this gene Green at the next GMS panel update.

At least 8 families reported with a multiple congenital anomaly disorder and distinct hemizygous variants in this gene. GDD/ID is part of the disease presentation and was noted in all cases of relevant age (PMIDs: 33131077 and 33523931).
Intellectual disability v3.774 OTUD5 Arina Puzriakova Gene: otud5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.773 OTUD5 Arina Puzriakova Tag Q2_21_rating tag was added to gene: OTUD5.
Intellectual disability v3.773 OTUD5 Zornitza Stark changed review comment from: PMID 33523931: Another 10 individuals from 7 families reported, promote to Green. X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.; to: PMID 33523931: Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.
Intellectual disability v3.773 OTUD5 Zornitza Stark edited their review of gene: OTUD5: Added comment: PMID 33523931: Another 10 individuals from 7 families reported, promote to Green. X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.; Changed rating: GREEN; Changed publications: 33131077, 33523931
Intellectual disability v3.773 PIGF Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Zornitza Stark. Rating Red as 2 families with the same (likely founder) variant reported at present (PMID: 33386993). Phenotypes did include severe ID or DD, respectively - but additional cases with other variants in the LRRC32 gene required to substantiate causation (added founder-effect tag); to: Comment on list classification: New gene added by Zornitza Stark. Rating Red as 2 families with the same (likely founder) variant reported at present (PMID: 33386993). Phenotypes did include severe ID or DD, respectively - but additional cases with other variants in the PIGF gene required to substantiate causation (added founder-effect tag)
Intellectual disability v3.773 PIGF Arina Puzriakova Tag founder-effect tag was added to gene: PIGF.
Intellectual disability v3.773 PIGF Arina Puzriakova Classified gene: PIGF as Red List (low evidence)
Intellectual disability v3.773 PIGF Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Red as 2 families with the same (likely founder) variant reported at present (PMID: 33386993). Phenotypes did include severe ID or DD, respectively - but additional cases with other variants in the LRRC32 gene required to substantiate causation (added founder-effect tag)
Intellectual disability v3.773 PIGF Arina Puzriakova Gene: pigf has been classified as Red List (Low Evidence).
Inborn errors of metabolism v2.67 NDUFC2 Sarah Leigh Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.66 NDUFC2 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFC2.
Intellectual disability v3.772 OTUD5 Arina Puzriakova Publications for gene: OTUD5 were set to 33131077
Inborn errors of metabolism v2.66 NDUFC2 Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence)
Inborn errors of metabolism v2.66 NDUFC2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Inborn errors of metabolism v2.66 NDUFC2 Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Inborn errors of metabolism v2.65 NDUFC2 Sarah Leigh edited their review of gene: NDUFC2: Added comment: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (10 May 2019, Oxford University Hospitals NHS Trust).; Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).; to: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).
Mitochondrial disorder with complex I deficiency v1.9 NDUFC2 Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).; to: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).
Undiagnosed metabolic disorders v1.445 NDUFC2 Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.445 NDUFC2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Undiagnosed metabolic disorders v1.445 NDUFC2 Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.771 OTUD5 Arina Puzriakova Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Undiagnosed metabolic disorders v1.444 NDUFC2 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFC2.
Undiagnosed metabolic disorders v1.444 NDUFC2 Sarah Leigh commented on gene: NDUFC2: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (10 May 2019, Oxford University Hospitals NHS Trust).
Inborn errors of metabolism v2.65 NDUFC2 Sarah Leigh Publications for gene: NDUFC2 were set to
Intellectual disability v3.770 METAP1 Arina Puzriakova Classified gene: METAP1 as Red List (low evidence)
Intellectual disability v3.770 METAP1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Red as only one family reported at present (PMID:32764695). Phenotypes do include ID/DD, but additional cases required to corroborate this gene-disease association.
Intellectual disability v3.770 METAP1 Arina Puzriakova Gene: metap1 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex I deficiency v1.9 NDUFC2 Sarah Leigh Added comment: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Mitochondrial disorder with complex I deficiency v1.9 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Inborn errors of metabolism v2.64 NDUFC2 Sarah Leigh Added comment: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Inborn errors of metabolism v2.64 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh changed review comment from: Comment on phenotypes: Assigned a OMIM phenotype 02/02/2021; to: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh Added comment: Comment on phenotypes: Assigned a OMIM phenotype 02/02/2021
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Mitochondrial disorder with complex I deficiency v1.8 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Undiagnosed metabolic disorders v1.444 NDUFC2 Sarah Leigh Publications for gene: NDUFC2 were set to
Severe microcephaly v2.102 HPDL Arina Puzriakova changed review comment from: Comment on list classification: HPDL was added to this panel following with clinical feedback from Helen Brittain (Genomics England Clinical Team). There is enough evidence for this gene to be rated Green at the next major review.; to: Comment on list classification: HPDL was added to this panel following clinical feedback from Helen Brittain (Genomics England Clinical Team). There is enough evidence for this gene to be rated Green at the next major review.
Undiagnosed metabolic disorders v1.443 NDUFC2 Sarah Leigh gene: NDUFC2 was added
gene: NDUFC2 was added to Undiagnosed metabolic disorders. Sources: Literature
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Review for gene: NDUFC2 was set to GREEN
Added comment: Sources: Literature
Severe microcephaly v2.102 HPDL Arina Puzriakova Classified gene: HPDL as Amber List (moderate evidence)
Severe microcephaly v2.102 HPDL Arina Puzriakova Added comment: Comment on list classification: HPDL was added to this panel following with clinical feedback from Helen Brittain (Genomics England Clinical Team). There is enough evidence for this gene to be rated Green at the next major review.
Severe microcephaly v2.102 HPDL Arina Puzriakova Gene: hpdl has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.101 HPDL Arina Puzriakova gene: HPDL was added
gene: HPDL was added to Severe microcephaly. Sources: Literature
Q2_21_rating tags were added to gene: HPDL.
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086; 33188300
Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Review for gene: HPDL was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and has a 'probable' disease confidence for 'HPDL Neurodegenerative Disease' in Gene2Phenotype.

At least 34 cases from 21 unrelated families with a paediatric-onset spastic movement disorder and biallelic variants in this gene (PMIDs: 32707086 and 33188300). There is broad clinical variability ranging from severe, neonatal-onset neurodevelopmental delay with neuroimaging findings resembling mitochondrial encephalopathy to milder manifestation of adolescent-onset, isolated HSP. Microcephaly of relevant severity (HC ≤ 3 SD) was observed in 13/30 cases.

Supportive functional studies were reported, including localization of HPDL protein to the mitochondria and muscle fibre abnormalities and a KO mouse model displaying features of seizures, early lethality, smaller brain sizes, and cellular apoptosis.
Sources: Literature
Mitochondrial disorders v2.14 HPDL Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 13 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 11 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).
Possible mitochondrial disorder - nuclear genes v1.33 HPDL Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 13 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 11 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).
Genetic epilepsy syndromes v2.292 HPDL Arina Puzriakova Phenotypes for gene: HPDL were changed from spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual; motor disability to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Genetic epilepsy syndromes v2.291 HPDL Arina Puzriakova Publications for gene: HPDL were set to PMID: 32707086; 33188300
Genetic epilepsy syndromes v2.290 HPDL Arina Puzriakova Classified gene: HPDL as Amber List (moderate evidence)
Genetic epilepsy syndromes v2.290 HPDL Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). There is enough evidence for this gene to be rated Green at the next major review.
Genetic epilepsy syndromes v2.290 HPDL Arina Puzriakova Gene: hpdl has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.289 HPDL Arina Puzriakova Tag Q2_21_rating tag was added to gene: HPDL.
Genetic epilepsy syndromes v2.289 HPDL Arina Puzriakova reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia - childhood onset v2.28 HPDL Arina Puzriakova Phenotypes for gene: HPDL were changed from spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; Spastic paraplegia 83, autosomal recessive, OMIM:619027; Spastic paraplegia 83, autosomal recessive, MONDO:0033614
Hereditary spastic paraplegia - childhood onset v2.27 HPDL Arina Puzriakova Publications for gene: HPDL were set to PMID: 32707086; 33188300
Hereditary spastic paraplegia - childhood onset v2.26 HPDL Arina Puzriakova Classified gene: HPDL as Amber List (moderate evidence)
Hereditary spastic paraplegia - childhood onset v2.26 HPDL Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). There is enough evidence for this gene to be rated Green at the next major review.
Hereditary spastic paraplegia - childhood onset v2.26 HPDL Arina Puzriakova Gene: hpdl has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia - childhood onset v2.25 HPDL Arina Puzriakova Tag Q2_21_rating tag was added to gene: HPDL.
Hereditary spastic paraplegia - childhood onset v2.25 HPDL Arina Puzriakova reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613, Spastic paraplegia 83, autosomal recessive, OMIM:619027, Spastic paraplegia 83, autosomal recessive, MONDO:0033614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.769 HPDL Arina Puzriakova Classified gene: HPDL as Amber List (moderate evidence)
Intellectual disability v3.769 HPDL Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). There is enough evidence for this gene to be rated Green at the next major review.
Intellectual disability v3.769 HPDL Arina Puzriakova Gene: hpdl has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.768 HPDL Arina Puzriakova Publications for gene: HPDL were set to PMID: 32707086; 33188300
Intellectual disability v3.767 HPDL Arina Puzriakova Tag Q2_21_rating tag was added to gene: HPDL.
Intellectual disability v3.767 HPDL Arina Puzriakova reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.767 HPDL Arina Puzriakova Phenotypes for gene: HPDL were changed from spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual; motor disability to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026; Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Optic neuropathy v2.35 PDSS1 Ivone Leong Tag watchlist tag was added to gene: PDSS1.
Optic neuropathy v2.35 PDSS1 Ivone Leong Classified gene: PDSS1 as Amber List (moderate evidence)
Optic neuropathy v2.35 PDSS1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. As there are only 2 cases there is not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Optic neuropathy v2.35 PDSS1 Ivone Leong Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v2.34 PDSS1 Ivone Leong Publications for gene: PDSS1 were set to 33285023
Intellectual disability v3.766 HIRA Arina Puzriakova Classified gene: HIRA as Amber List (moderate evidence)
Intellectual disability v3.766 HIRA Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. At least 4 unrelated individuals with heterozygous variants in this gene - however, only 1 presented moderate ID (2 had ASD rather than ID, while the phenotype is unclear for the fourth individual). HIRA is a good candidate for neurodevelopmental impairment, supported by an animal model, but additional cases are required to ascertain the relevance of ID.

Therefore, at present there is only enough evidence to rate Amber awaiting further cases/clinical evidence (added 'watchlist' tag)
Intellectual disability v3.766 HIRA Arina Puzriakova Gene: hira has been classified as Amber List (Moderate Evidence).
Optic neuropathy v2.33 PDSS1 Ivone Leong Phenotypes for gene: PDSS1 were changed from Coenzyme Q10 deficiency, primary, 2, MIM# 614651 to Coenzyme Q10 deficiency, primary, 2, OMIM:614651
Intellectual disability v3.765 HIRA Arina Puzriakova Tag watchlist tag was added to gene: HIRA.
Intellectual disability v3.765 HIRA Arina Puzriakova reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25363760, 28135719, 33417013; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v2.32 SSBP1 Ivone Leong Phenotypes for gene: SSBP1 were changed from Autosomal dominant optic atrophy with variable retinal degeneration to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510; Autosomal dominant optic atrophy with variable retinal degeneration; Optic atrophy with retinal degeneration (+-systemic features)
Optic neuropathy v2.31 SSBP1 Ivone Leong Publications for gene: SSBP1 were set to 31298765
Intellectual disability v3.765 VPS4A Arina Puzriakova Phenotypes for gene: VPS4A were changed from developmental delay; intellectual disability; cerebellar hypoplasia; pontine hypoplasia; thin corpus callosum; microcephaly; growth retardation; congenital anaemia; dyserythropeoitic anaemia; dystonia; congenital cataracts; deafness to CIMDAG syndrome
Rare anaemia v1.14 VPS4A Arina Puzriakova Phenotypes for gene: VPS4A were changed from developmental delay; intellectual disability; cerebellar hypoplasia; pontine hypoplasia; thin corpus callosum; microcephaly; growth retardation; congenital anaemia; dyserythropeoitic anaemia; dystonia; congenital cataracts; deafness to CIMDAG syndrome
Congenital disorders of glycosylation v2.65 TMEM199 Sarah Leigh Phenotypes for gene: TMEM199 were changed from Congenital disorder of glycosylation, type IIp 616829 to Congenital disorder of glycosylation, type IIp OMIM:616829; TMEM199-CDG MONDO:0014790
Congenital disorders of glycosylation v2.64 TMEM199 Sarah Leigh Publications for gene: TMEM199 were set to 26833330
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Classified gene: TMEM199 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Gene: tmem199 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.62 SLC35A2 Sarah Leigh Classified gene: SLC35A2 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.62 SLC35A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.62 SLC35A2 Sarah Leigh Gene: slc35a2 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.61 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm 300896 to Congenital disorder of glycosylation, type IIm OMIM:300896; Developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.60 SLC35A2 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.60 SLC35A2 Sarah Leigh Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type IIm OMIM:300896;Developmental and epileptic encephalopathy-22 OMIM:300896;SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.60 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm OMIM:300896; developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478 to Congenital disorder of glycosylation, type IIm 300896
Congenital disorders of glycosylation v2.59 SLC35A2 Sarah Leigh Publications for gene: SLC35A2 were set to 23561849; 24115232; 27743886; 25778940; 30817854
Congenital disorders of glycosylation v2.58 SLC35A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: SLC35A2.
Congenital disorders of glycosylation v2.58 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm OMIM:300896; SLC35A2-CDG MONDO:0010478 to Congenital disorder of glycosylation, type IIm OMIM:300896; developmental and epileptic encephalopathy-22 OMIM:300896; SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.57 SLC35A2 Sarah Leigh Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm 300896 to Congenital disorder of glycosylation, type IIm OMIM:300896; SLC35A2-CDG MONDO:0010478
Congenital disorders of glycosylation v2.56 SLC35A2 Sarah Leigh Publications for gene: SLC35A2 were set to 25778940; 27743886; 23561849
Inborn errors of metabolism v2.63 POMK Sarah Leigh Classified gene: POMK as Amber List (moderate evidence)
Inborn errors of metabolism v2.63 POMK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Inborn errors of metabolism v2.63 POMK Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.55 POMK Sarah Leigh Classified gene: POMK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.55 POMK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.55 POMK Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence).
Inborn errors of metabolism v2.62 POMK Sarah Leigh Tag Q2_21_rating tag was added to gene: POMK.
Congenital disorders of glycosylation v2.54 POMK Sarah Leigh Classified gene: POMK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.54 POMK Sarah Leigh Gene: pomk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.53 POMK Sarah Leigh Tag Q2_21_rating tag was added to gene: POMK.
Congenital disorders of glycosylation v2.53 POMK Sarah Leigh reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inborn errors of metabolism v2.62 POMK Sarah Leigh reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inborn errors of metabolism v2.62 POMK Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094; limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Limb girdle muscular dystrophy v2.18 POMK Sarah Leigh Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; limb girdle muscular dystrophy; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094; limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Congenital disorders of glycosylation v2.53 POMK Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Inborn errors of metabolism v2.61 POMK Sarah Leigh Publications for gene: POMK were set to 23519211; 24556084; 24925318
Congenital disorders of glycosylation v2.52 POMK Sarah Leigh Publications for gene: POMK were set to 23519211; 24556084; 24925318
Arthrogryposis v3.72 MYLPF Arina Puzriakova Tag watchlist was removed from gene: MYLPF.
Limb girdle muscular dystrophy v2.17 POMK Sarah Leigh Publications for gene: POMK were set to 24925318; 24556084; 29910097
Congenital disorders of glycosylation v2.51 POMK Sarah Leigh Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249
Undiagnosed metabolic disorders v1.442 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 to Congenital disorder of glycosylation, type Icc OMIM:301031; congenital disorder of glycosylation, type ICC MONDO:0026729; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853; X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Congenital disorders of glycosylation v2.50 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type Icc OMIM:301031; congenital disorder of glycosylation, type ICC MONDO:0026729;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Congenital disorders of glycosylation v2.50 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation)
Undiagnosed metabolic disorders v1.441 MAGT1 Sarah Leigh commented on gene: MAGT1: PMID 31036665 and PMID 31714901 demonstrate that variants in MAGT1 can result in disruption of glycosylation. This effect could be rescued in vitro by transfection of MAGT1 mRNA (PMID 31714901).
This gene is subject to skewed X-inactivation.
Undiagnosed metabolic disorders v1.441 MAGT1 Sarah Leigh Tag Skewed X-inactivation tag was added to gene: MAGT1.
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh edited their review of gene: MAGT1: Added comment: PMID 31036665 and PMID 31714901 demonstrate that variants in MAGT1 can result in disruption of glycosylation. This effect could be rescued in vitro by transfection of MAGT1 mRNA (PMID 31714901).
This gene is subject to skewed X-inactivation.; Changed rating: GREEN
Arthrogryposis v3.72 MYLPF Arina Puzriakova Tag watchlist tag was added to gene: MYLPF.
Arthrogryposis v3.72 MYLPF Arina Puzriakova Phenotypes for gene: MYLPF were changed from Distal arthrogryoposis to Arthrogryposis, distal, type 1C, OMIM:619110; Arthrogryposis, distal, type 1C, MONDO:0030847
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Tag Skewed X-inactivation tag was added to gene: MAGT1.
Tag Q2_21_phenotype tag was added to gene: MAGT1.
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Classified gene: MAGT1 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.49 MAGT1 Sarah Leigh Gene: magt1 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia v1.208 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549
Hereditary ataxia - adult onset v2.21 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8; Autosomal recessive spinocerebellar ataxia type 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549
Ataxia and cerebellar anomalies - narrow panel v2.40 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549
Fetal anomalies v1.624 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Fetal anomalies v1.623 SYNE1 Arina Puzriakova Publications for gene: SYNE1 were set to
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Classified gene: SYNE1 as Amber List (moderate evidence)
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update - at least 3 unrelated cases with arthrogryposis multiplex congenita (AMC) which may be detected prenatally.
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Gene: syne1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.621 SYNE1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYNE1.
Fetal anomalies v1.621 SYNE1 Arina Puzriakova reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19542096, 24319099, 27782104; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v3.71 SYNE1 Arina Puzriakova Publications for gene: SYNE1 were set to
Arthrogryposis v3.70 SYNE1 Arina Puzriakova Classified gene: SYNE1 as Amber List (moderate evidence)
Arthrogryposis v3.70 SYNE1 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update.
Arthrogryposis v3.70 SYNE1 Arina Puzriakova Gene: syne1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.69 SYNE1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYNE1.
Arthrogryposis v3.69 SYNE1 Arina Puzriakova reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19542096, 24319099, 27782104; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.48 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411
Inborn errors of metabolism v2.60 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Inborn errors of metabolism v2.59 GORAB Sarah Leigh edited their review of gene: GORAB: Added comment: PMID 30631079 demonstrates that disrupting variants in GORAB result in "impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor". The authors conclude that this finding supports the view that "defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica".
Therefore variants in GORAB are relevant to this panel based on this mechanism.; Changed rating: GREEN
Inborn errors of metabolism v2.59 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Congenital disorders of glycosylation v2.47 GORAB Sarah Leigh edited their review of gene: GORAB: Added comment: PMID 30631079 demonstrates that disrupting variants in GORAB result in "impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor". The authors conclude that this finding supports the view that "defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica".
Therefore variants in GORAB are relevant to this panel based on this mechanism.; Changed rating: GREEN
Inborn errors of metabolism v2.58 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Inborn errors of metabolism v2.57 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Inborn errors of metabolism v2.57 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Inborn errors of metabolism v2.57 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619
Congenital disorders of glycosylation v2.47 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Inborn errors of metabolism v2.56 GORAB Sarah Leigh Classified gene: GORAB as Amber List (moderate evidence)
Inborn errors of metabolism v2.56 GORAB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Inborn errors of metabolism v2.56 GORAB Sarah Leigh Gene: gorab has been classified as Amber List (Moderate Evidence).
Inborn errors of metabolism v2.55 GORAB Sarah Leigh Tag Q2_21_phenotype tag was added to gene: GORAB.
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Classified gene: GORAB as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Gene: gorab has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.45 GORAB Sarah Leigh Tag Q2_21_phenotype tag was added to gene: GORAB.
Congenital disorders of glycosylation v2.45 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum 231070 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Congenital disorders of glycosylation v2.44 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Tag Q2_21_rating tag was added to gene: G6PC3.
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Classified gene: G6PC3 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.43 G6PC3 Sarah Leigh Gene: g6pc3 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.42 G6PC3 Sarah Leigh Publications for gene: G6PC3 were set to 19118303; 21385794
Congenital disorders of glycosylation v2.41 G6PC3 Sarah Leigh Publications for gene: G6PC3 were set to 21385794
Congenital disorders of glycosylation v2.40 G6PC3 Sarah Leigh reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Infantile enterocolitis & monogenic inflammatory bowel disease v1.19 G6PC3 Sarah Leigh Phenotypes for gene: G6PC3 were changed from Congenital neutropenia to Dursun syndrome OMIM:612541; Neutropenia, severe congenital 4, autosomal recessive OMIM:612541; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Congenital disorders of glycosylation v2.40 G6PC3 Sarah Leigh Phenotypes for gene: G6PC3 were changed from Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541 to Dursun syndrome OMIM:612541; Neutropenia, severe congenital 4, autosomal recessive OMIM:612541; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
Genetic epilepsy syndromes v2.289 FUK Sarah Leigh Phenotypes for gene: FUK were changed from Seizures; Generalized hypotonia; Feeding difficulties; Intellectual disability; Global developmental delay; Abnormality of vision; Congenital disorder of glycosylation with defective fucosylation 2, 618324 to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Congenital disorders of glycosylation v2.39 FUK Sarah Leigh Phenotypes for gene: FUK were changed from Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 to Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324; congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh edited their review of gene: FUK: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least three variants reported in two unrelated cases.; Changed rating: AMBER
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh Classified gene: FUK as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.38 FUK Sarah Leigh Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh Tag watchlist tag was added to gene: FUK.
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh commented on gene: FUK
Congenital disorders of glycosylation v2.37 FUK Sarah Leigh Tag new-gene-name tag was added to gene: FUK.
Congenital disorders of glycosylation v2.37 EOGT Sarah Leigh Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, MIM# 615297 to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Tag Q2_21_rating tag was added to gene: EOGT.
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh edited their review of gene: EOGT: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in five unrelated cases.; Changed rating: GREEN
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Classified gene: EOGT as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.36 EOGT Sarah Leigh Gene: eogt has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.69 SYNE1 Arina Puzriakova Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss Muscular Dystrophy; Spinocerebellar ataxia, autosomal recessive 8, 610743 to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Arthrogryposis v3.68 SYNE1 Arina Puzriakova Mode of inheritance for gene: SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Tag Q2_21_rating tag was added to gene: B4GALNT1.
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Classified gene: B4GALNT1 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.35 B4GALNT1 Sarah Leigh Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.764 B4GALNT1 Sarah Leigh Classified gene: B4GALNT1 as Green List (high evidence)
Intellectual disability v3.764 B4GALNT1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in at least eight unrelated cases.
Intellectual disability v3.764 B4GALNT1 Sarah Leigh Gene: b4galnt1 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v2.34 B4GALNT1 Sarah Leigh reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v3.763 B4GALNT1 Sarah Leigh Publications for gene: B4GALNT1 were set to
Intellectual disability v3.762 B4GALNT1 Sarah Leigh Phenotypes for gene: B4GALNT1 were changed from ID; Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213
Congenital disorders of glycosylation v2.34 B4GALNT1 Sarah Leigh Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive (MIM #609195) to Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213
Arthrogryposis v3.67 SCN4A Arina Puzriakova Phenotypes for gene: SCN4A were changed from Congenital Myasthenic Syndrome, Recessive; Hyperkalemic periodic paralysis, type 2, 170500 to Myasthenic syndrome, congenital, 16, OMIM:614198, Congenital myasthenic syndrome 16, MONDO:0013620
Arthrogryposis v3.66 SCN4A Arina Puzriakova commented on gene: SCN4A
Inborn errors of metabolism v2.55 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880
Inborn errors of metabolism v2.54 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Inborn errors of metabolism v2.53 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26912795
Inborn errors of metabolism v2.53 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.33 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Added comment: Comment on phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Congenital disorders of glycosylation v2.32 TRAPPC11 Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, type 2S 615356
Congenital disorders of glycosylation v2.31 TRAPPC11 Sarah Leigh Publications for gene: TRAPPC11 were set to 26912795; 23830518
Arthrogryposis v3.66 MYL1 Arina Puzriakova Publications for gene: MYL1 were set to
Arthrogryposis v3.65 MYL1 Arina Puzriakova Classified gene: MYL1 as Green List (high evidence)
Arthrogryposis v3.65 MYL1 Arina Puzriakova Added comment: Comment on list classification: Only mild contractures described in 1/2 individuals with variants in this gene. Therefore, there is only enough evidence for a RED rating on this panel at present. These cases would still expected to be picked up via the 'Congenital myopathy' or 'Fetal anomalies' routes for which this gene is Green.
Arthrogryposis v3.65 MYL1 Arina Puzriakova Gene: myl1 has been classified as Green List (High Evidence).
Inborn errors of metabolism v2.52 TRAPPC11 Sarah Leigh Classified gene: TRAPPC11 as Amber List (moderate evidence)
Inborn errors of metabolism v2.52 TRAPPC11 Sarah Leigh Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Inborn errors of metabolism v2.51 TRAPPC11 Sarah Leigh reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh edited their review of gene: TRAPPC11: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in four unrelated cases. Animal model suggestive of involvement in glycosylation.; Changed rating: AMBER
Arthrogryposis v3.64 MYL1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: MYL1.
Arthrogryposis v3.64 MYL1 Arina Puzriakova commented on gene: MYL1
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh Classified gene: TRAPPC11 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.30 TRAPPC11 Sarah Leigh Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Tag Q2_21_rating tag was added to gene: PIGW.
Fetal anomalies v1.621 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416
Fetal anomalies v1.620 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
Fetal anomalies v1.620 MYL9 Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as there are now two unrelated families presenting features of MMIHS, associated with different biallelic variants in the MYL9 gene (PMIDs: 29453416; 33031641).

Additional cases/functional evidence required prior to inclusion as diagnostic-grade.
Fetal anomalies v1.620 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh edited their review of gene: PIGW: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least six variants reported in at least four unrelated cases.; Changed rating: GREEN
Fetal anomalies v1.619 GDF6 Arina Puzriakova Phenotypes for gene: GDF6 were changed from MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1 to MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1; Syndromic CAKUT
Fetal anomalies v1.618 GDF6 Arina Puzriakova Publications for gene: GDF6 were set to
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Classified gene: PIGW as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.29 PIGW Sarah Leigh Gene: pigw has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.28 PIGW Sarah Leigh Phenotypes for gene: PIGW were changed from ?Hyperphosphatasia with mental retardation syndrome 5 616025 to Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025; hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457
Congenital disorders of glycosylation v2.27 PIGW Sarah Leigh Publications for gene: PIGW were set to 24367057
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC20A1.
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Classified gene: SLC20A1 as Amber List (moderate evidence)
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to promote to Green.

At least three unrelated families with a BEEC phenotype (fetally-relevant) and different heterozygous variants in this gene (PMID: 32850778). In vitro assays and zebrafish model support pathogenicity.
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Gene: slc20a1 has been classified as Amber List (Moderate Evidence).
Inborn errors of metabolism v2.51 ACSF3 Zornitza Stark reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.51 AASS Zornitza Stark reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: None; Publications: 23570448; Phenotypes: Hyperlysinemia, MIM# 238700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.761 PIGF Zornitza Stark gene: PIGF was added
gene: PIGF was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGF were set to 33386993
Phenotypes for gene: PIGF were set to Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures
Review for gene: PIGF was set to RED
Added comment: The same homozygous missense variant identified in 2 individuals from different families from the same region of India. Individuals had a phenotype similar to DOORS syndrome without deafness. Impaired glycosylphosphatidylinositol (GPI) biosynthesis was demonstrated.

Rated Red as the two families are likely to be related (founder mutation?).
Sources: Literature
Laterality disorders and isomerism v1.21 BRWD1 Zornitza Stark gene: BRWD1 was added
gene: BRWD1 was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: BRWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRWD1 were set to 33389130
Phenotypes for gene: BRWD1 were set to Primary ciliary dyskinesia, asthenoteratozoospermia
Review for gene: BRWD1 was set to GREEN
Added comment: Biallelic missense variants reported in 3 unrelated individuals. Apart from asthenoteratozoospermia, all 3 had PCD or "PCD-like" symptoms of reccurring airway infections, bronchiectasis, and rhinosinusitis. One individual had situs inversus. Studies on cells from one indivdidual showed abnormal respiratory cilia structure. BRWD1 staining was absent from respiratory cilia in this individual (present in controls).
Sources: Literature
Inborn errors of metabolism v2.51 PNPLA2 Zornitza Stark gene: PNPLA2 was added
gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717
Review for gene: PNPLA2 was set to GREEN
Added comment: PLPLA2 is a triglyceride lipase and this is a lipid storage disorder.
Sources: Expert Review
Inborn errors of metabolism v2.51 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Inborn errors of metabolism. Sources: Expert Review
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 23519211; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249)
Review for gene: POMK was set to GREEN
gene: POMK was marked as current diagnostic
Added comment: Other enzyme deficiencies causing dystroglycanopathies are included in the panel.
Sources: Expert Review
Clefting v2.24 ACBD5 Zornitza Stark reviewed gene: ACBD5: Rating: RED; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders v1.139 LAMA1 John Sayer gene: LAMA1 was added
gene: LAMA1 was added to Rare multisystem ciliopathy disorders. Sources: Expert Review
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to https://www.ncbi.nlm.nih.gov/pubmed/25105227
Phenotypes for gene: LAMA1 were set to cerebellar cysts; myopia; cerebellar vermis hypoplasia; gaze palsy; retinitis pigments
Penetrance for gene: LAMA1 were set to Complete
Review for gene: LAMA1 was set to GREEN
Added comment: LAMA1 causes Poretti-Boltshauser syndrome - but this is often misdiagnosed as Joubert syndrome so the ciliopathies panel needs to include LAMA1
Sources: Expert Review
Ataxia and cerebellar anomalies - narrow panel v2.39 LAMA1 John Sayer reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://www.ncbi.nlm.nih.gov/pubmed/25105227; Phenotypes: cerebellar dysplasia, cerebellar vermis atrophy, myopia, cerebellar cysts, abnormal eye movements; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.761 DDX58 Arina Puzriakova reviewed gene: DDX58: Rating: ; 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: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.761 DDX58 Arina Puzriakova Mode of inheritance for gene: DDX58 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v1.47 DDX58 Arina Puzriakova Publications for gene: DDX58 were set to 25620203; 30574673
Structural eye disease v1.46 DDX58 Arina Puzriakova Phenotypes for gene: DDX58 were changed from Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. to Singleton-Merten syndrome 2, OMIM:616298; Singleton-Merten syndrome 2, MONDO:0014575
Structural eye disease v1.45 DDX58 Arina Puzriakova Mode of pathogenicity for gene: DDX58 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
Structural eye disease v1.44 DDX58 Arina Puzriakova edited their review of gene: DDX58: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v1.44 DDX58 Arina Puzriakova reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298, Singleton-Merten syndrome 2, MONDO:0014575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Glaucoma (developmental) v1.12 DDX58 Arina Puzriakova Publications for gene: DDX58 were set to 2509; 3588; 25620203
Glaucoma (developmental) v1.11 DDX58 Arina Puzriakova Classified gene: DDX58 as Green List (high evidence)
Glaucoma (developmental) v1.11 DDX58 Arina Puzriakova Added comment: Comment on list classification: At least 4 gain-of-function variants identified in 5 unrelated families with Singleton-Merten syndrome 2, including glaucoma in all affected individuals (PMIDs: 25620203; 30574673; 33495304). Therefore, this now reaches threshold for a rating upgrade from Amber to Green.
Glaucoma (developmental) v1.11 DDX58 Arina Puzriakova Gene: ddx58 has been classified as Green List (High Evidence).
Glaucoma (developmental) v1.10 DDX58 Arina Puzriakova reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203, 30574673, 33495304; Phenotypes: Singleton-Merten syndrome 2, OMIM:616298, Singleton-Merten syndrome 2, MONDO:0014575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v2.30 FDXR Ivone Leong Publications for gene: FDXR were set to 30250212; 28965846; 29040572; 32499495
Disorders of sex development v2.16 ISCA-46302-Gain Catherine Snow Tag for-review tag was added to Region: ISCA-46302-Gain.
Disorders of sex development v2.16 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Amber List (moderate evidence)
Disorders of sex development v2.16 ISCA-46302-Gain Catherine Snow Added comment: Comment on list classification: Addition of region inline with ClinGen regions classifications. Reviewed by GEL clinical team for panel phenotype, NR0B1 green on panel so CNV should be added too and phenotype of gonadal dysgenesis relevant to this panel.
Disorders of sex development v2.16 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.15 ISCA-46302-Gain Catherine Snow Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Disorders of sex development. Sources: ClinGen
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758
Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis
Review for Region: ISCA-46302-Gain was set to AMBER
Added comment: Sources: ClinGen
Fetal anomalies v1.616 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Amber List (moderate evidence)
Fetal anomalies v1.616 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow changed review comment from: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen; to: Addition of region inline with ClinGen regions classifications. Reviewed by GEL clinical team for panel phenotype, noted that this may escape detection in fetal life, however as the fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Red List (low evidence)
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Red List (Low Evidence).
Fetal anomalies v1.614 ISCA-46302-Gain Catherine Snow Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Fetal anomalies. Sources: ClinGen
for-review tags were added to Region: ISCA-46302-Gain.
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758
Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis
Review for Region: ISCA-46302-Gain was set to AMBER
Added comment: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Genetic epilepsy syndromes v2.288 HPDL Evan Reid gene: HPDL was added
gene: HPDL was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to PMID: 32707086; 33188300
Phenotypes for gene: HPDL were set to spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual; motor disability
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: Newly identified gene that can give a phenotype ranging from infantile epileptic encephalopathy to juvenile onset progressive spastic paraplegia.
Sources: Literature
Intellectual disability v3.760 HPDL Evan Reid gene: HPDL was added
gene: HPDL was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to PMID: 32707086; 33188300
Phenotypes for gene: HPDL were set to spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual; motor disability
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: Newly identified gene that can give a phenotype ranging from infantile epileptic encephalopathy with severe developmental delay/intellectual disability to juvenile onset progressive spastic paraplegia.
Sources: Literature
Hereditary spastic paraplegia - childhood onset v2.25 HPDL Evan Reid gene: HPDL was added
gene: HPDL was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to PMID: 32707086; 33188300
Phenotypes for gene: HPDL were set to spastic paraplegia; spastic tetraplegia; microcephaly; brain atrophy; epilepsy; severe intellectual and motor disability
Penetrance for gene: HPDL were set to Complete
Review for gene: HPDL was set to GREEN
Added comment: Newly identified gene that can give a phenotype ranging from infantile epileptic encephalopathy to juvenile onset progressive spastic paraplegia.
Sources: Literature
Glaucoma (developmental) v1.10 DDX58 Arina Puzriakova Phenotypes for gene: DDX58 were changed from Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities. to Singleton-Merten syndrome 2, OMIM:616298; Singleton-Merten syndrome 2, MONDO:0014575
Skeletal dysplasia v2.81 TBXAS1 Ivone Leong Tag for-review tag was added to gene: TBXAS1.
Optic neuropathy v2.29 FDXR Neringa Jurkute reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28965846, 32499495, 30250212, 33348459, 29040572; Phenotypes: Optic atrophy and sensorineural hearing loss, mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Endocrine neoplasms v1.12 EGFR Eleanor Williams Classified gene: EGFR as Amber List (moderate evidence)
Endocrine neoplasms v1.12 EGFR Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. More than one case of patient with ACC and germline variants in EGFR. But no family history/segregation data to further confirm the disease association.
Endocrine neoplasms v1.12 EGFR Eleanor Williams Gene: egfr has been classified as Amber List (Moderate Evidence).
Optic neuropathy v2.29 SSBP1 Neringa Jurkute reviewed gene: SSBP1: 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: PMID: 31298765, PMID: 31550240, PMID: 31550237, PMID: 30412255; Phenotypes: Optic atrophy with retinal degeneration (+-systemic features); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leber hereditary optic neuropathy v1.7 DNAJC30 Neringa Jurkute reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33465056; Phenotypes: LHON-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leber hereditary optic neuropathy v1.7 DNAJC30 Neringa Jurkute Deleted their review
Skeletal dysplasia v2.81 GZF1 Ivone Leong Tag for-review tag was added to gene: GZF1.
Fetal anomalies v1.613 SCLT1 Ivone Leong Tag for-review tag was added to gene: SCLT1.
Fetal anomalies v1.613 CASR Ivone Leong Tag for-review tag was added to gene: CASR.
Endocrine neoplasms v1.11 EGFR Eleanor Williams changed review comment from: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.
Sources: Literature; to: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.
Sources: Literature
Endocrine neoplasms v1.11 EGFR Eleanor Williams gene: EGFR was added
gene: EGFR was added to Endocrine neoplasms. Sources: Literature
Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EGFR were set to 33326033
Phenotypes for gene: EGFR were set to Adrenocortical carcinoma
Review for gene: EGFR was set to AMBER
Added comment: PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). No segregation data.
Sources: Literature
Intellectual disability v3.760 TCTN3 Arina Puzriakova Publications for gene: TCTN3 were set to
Intellectual disability v3.759 TCTN3 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

At least 3 unrelated cases with Joubert syndrome, presenting with ID, and biallelic variants in this gene (PMIDs: 22883145; 25118024; 26092869); to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

Independent reports of at least 3 unrelated cases with Joubert syndrome, presenting with ID, and different biallelic variants in this gene (PMIDs: 22883145; 25118024; 26092869)
Intellectual disability v3.759 TCTN3 Arina Puzriakova Classified gene: TCTN3 as Amber List (moderate evidence)
Intellectual disability v3.759 TCTN3 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag).

At least 3 unrelated cases with Joubert syndrome, presenting with ID, and biallelic variants in this gene (PMIDs: 22883145; 25118024; 26092869)
Intellectual disability v3.759 TCTN3 Arina Puzriakova Gene: tctn3 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.288 PMPCB Ivone Leong Tag for-review was removed from gene: PMPCB.
Fetal anomalies v1.613 PRUNE1 Eleanor Williams Publications for gene: PRUNE1 were set to
Severe microcephaly v2.100 PRUNE1 Eleanor Williams Publications for gene: PRUNE1 were set to Brain 2017 awx014. doi: 10.1093/brain/awx014
Severe microcephaly v2.99 PRUNE1 Eleanor Williams Phenotypes for gene: PRUNE1 were changed from microcephaly, spasticity, developmental delay to microcephaly, spasticity, developmental delay; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481; neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
Severe microcephaly v2.98 PRUNE1 Eleanor Williams reviewed gene: PRUNE1: Rating: ; Mode of pathogenicity: None; Publications: 33105479; Phenotypes: ; Mode of inheritance: None
Intellectual disability v3.758 PRUNE1 Eleanor Williams Phenotypes for gene: PRUNE1 were changed from Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481; NMIHBA; Complex neurological syndrome to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481; neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490; NMIHBA; Complex neurological syndrome
Intellectual disability v3.757 PRUNE1 Eleanor Williams Publications for gene: PRUNE1 were set to 26539891; 28334956
Intellectual disability v3.756 PRUNE1 Eleanor Williams reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33105479; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481, neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.756 TCTN3 Arina Puzriakova Tag for-review tag was added to gene: TCTN3.
Cataracts v2.62 VPS4A Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
Cataracts v2.62 VPS4A Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia or chorea or related movement disorder v1.83 VPS4A Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
Childhood onset dystonia or chorea or related movement disorder v1.83 VPS4A Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataracts v2.61 VPS4A Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence)
Cataracts v2.61 VPS4A Arina Puzriakova Added comment: Comment on list classification: At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including congenital/early-onset cataracts in 6/10 cases. Pathogenicity is supported by functional data.

There are sufficient cases to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Cataracts v2.61 VPS4A Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence).
Cataracts v2.60 VPS4A Arina Puzriakova gene: VPS4A was added
gene: VPS4A was added to Cataracts. Sources: Expert Review
for-review tags were added to gene: VPS4A.
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186545; 33186543; 33460484
Phenotypes for gene: VPS4A were set to CIMDAG syndrome
Review for gene: VPS4A was set to GREEN
Added comment: Gene currently not associated with any phenotype in OMIM (last edited: 20/12/2019) or Gene2Phenotype.

- PMID: 33186545 (2020) - Six unrelated individuals with de novo missense variants (c.850A>T, c.850A>G, c.616G>A) affecting the ATPase domain of VPS4A. Clinical features include severe DD and profound ID (6/6), hypotonia (5/6), microcephaly (6/6), dystonia (5/6), congenital cataracts (4/5), epilepsy (3/6), anaemia (3/6 - dyserythropoietic in 2), and structural brain abnormalities including cerebellar hypoplasia (5/6) or severe cerebral atrophy (1/6). Some functional data indicating a dominant-negative effect.

- PMID: 33186543 (2020) - Three unrelated individuals with congenital dyserythropoietic anaemia, severe neurodevelopmental delay, and dystonia. Two patients harboured different de novo variants (c.850A>T, c.608G>A) in the ATPase domain, while the third had a homozygous alteration (c.83C>T) occurring in the N-terminal microtubule interacting and trafficking domain of VPS4A. The first two individuals congenital microcephaly with brain MRI showing white matter and cerebral volume loss, thin corpus callosum, and ponto-cerebellar atrophy. One individual also displayed a seizure disorder and congenital cataracts. The case with the biallelic variant presented with a milder hematologic phenotype and had macrocephaly (rather than microcephaly) and delayed white matter myelination. Functional studies support pathogenicity.

- PMID: 33460484 (2021) - One child with a a severe neurodevelopmental disorder and congenital haemolytic anaemia but no overt sign of dyserythropoiesis, associated with a de novo variant (c.850A>T) in VPS4A. Other features include microcephaly (-2.5 SD), choreodystonic movements, and bilateral cataract. Brain MRI showed cerebral atrophy, thin dysplastic corpus callosum, basal ganglia atrophy, brainstem hypoplasia, cerebellar hypoplasia and dysplasia
Sources: Expert Review
Childhood onset dystonia or chorea or related movement disorder v1.82 VPS4A Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence)
Childhood onset dystonia or chorea or related movement disorder v1.82 VPS4A Arina Puzriakova Added comment: Comment on list classification: At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including childhood onset dystonia in 9/10 cases. Pathogenicity is supported by functional data.

There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Childhood onset dystonia or chorea or related movement disorder v1.82 VPS4A Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia or chorea or related movement disorder v1.81 VPS4A Arina Puzriakova gene: VPS4A was added
gene: VPS4A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review
for-review tags were added to gene: VPS4A.
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186545; 33186543; 33460484
Phenotypes for gene: VPS4A were set to CIMDAG syndrome
Review for gene: VPS4A was set to GREEN
Added comment: Gene currently not associated with any phenotype in OMIM (last edited: 20/12/2019) or Gene2Phenotype.

- PMID: 33186545 (2020) - Six unrelated individuals with de novo missense variants (c.850A>T, c.850A>G, c.616G>A) affecting the ATPase domain of VPS4A. Clinical features include severe DD and profound ID (6/6), hypotonia (5/6), microcephaly (6/6), dystonia (5/6), congenital cataracts (4/5), epilepsy (3/6), anaemia (3/6 - dyserythropoietic in 2), and structural brain abnormalities including cerebellar hypoplasia (5/6) or severe cerebral atrophy (1/6). Some functional data indicating a dominant-negative effect.

- PMID: 33186543 (2020) - Three unrelated individuals with congenital dyserythropoietic anaemia, severe neurodevelopmental delay, and dystonia. Two patients harboured different de novo variants (c.850A>T, c.608G>A) in the ATPase domain, while the third had a homozygous alteration (c.83C>T) occurring in the N-terminal microtubule interacting and trafficking domain of VPS4A. The first two individuals congenital microcephaly with brain MRI showing white matter and cerebral volume loss, thin corpus callosum, and ponto-cerebellar atrophy. One individual also displayed a seizure disorder and congenital cataracts. The case with the biallelic variant presented with a milder hematologic phenotype and had macrocephaly (rather than microcephaly) and delayed white matter myelination. Functional studies support pathogenicity.

- PMID: 33460484 (2021) - One child with a a severe neurodevelopmental disorder and congenital haemolytic anaemia but no overt sign of dyserythropoiesis, associated with a de novo variant (c.850A>T) in VPS4A. Other features include microcephaly (-2.5 SD), choreodystonic movements, and bilateral cataract. Brain MRI showed cerebral atrophy, thin dysplastic corpus callosum, basal ganglia atrophy, brainstem hypoplasia, cerebellar hypoplasia and dysplasia
Sources: Expert Review
Rare anaemia v1.13 VPS4A Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence)
Rare anaemia v1.13 VPS4A Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including haemolytic anaemia in 7/10 cases. Pathogenicity is supported by functional data.

There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Rare anaemia v1.13 VPS4A Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence).
Rare anaemia v1.12 VPS4A Arina Puzriakova Publications for gene: VPS4A were set to (PMID: 33186545; 33186543; 33460484)
Rare anaemia v1.11 VPS4A Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
Rare anaemia v1.11 VPS4A Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v1.10 VPS4A Arina Puzriakova reviewed gene: VPS4A: 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: 33186545, 33186543, 33460484; Phenotypes: CIMDAG syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.756 VPS4A Arina Puzriakova edited their review of gene: VPS4A: Changed publications: 33186545, 33186543, 33460484
Intellectual disability v3.756 VPS4A Arina Puzriakova Classified gene: VPS4A as Amber List (moderate evidence)
Intellectual disability v3.756 VPS4A Arina Puzriakova Added comment: Comment on list classification: New gene added by Evan Reid (University of Cambridge). At least 5 different variants reported in 10 unrelated individuals with a comparable phenotype, including severe-to-profound ID/DD. Pathogenicity is supported by functional data.

There is enough evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag)
Intellectual disability v3.756 VPS4A Arina Puzriakova Gene: vps4a has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.755 VPS4A Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' as only one biallelic case reported to date, and patients with biallelic variants would still be picked up by the Genomics England pipeline.
Intellectual disability v3.755 VPS4A Arina Puzriakova Mode of inheritance for gene: VPS4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.754 VPS4A Arina Puzriakova reviewed gene: VPS4A: 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: 33186545, 33186543; Phenotypes: CIMDAG syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v1.10 VPS4A Ivone Leong Tag for-review tag was added to gene: VPS4A.
Rare anaemia v1.10 VPS4A Ivone Leong Classified gene: VPS4A as Amber List (moderate evidence)
Rare anaemia v1.10 VPS4A Ivone Leong Gene: vps4a has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.754 VPS4A Ivone Leong Tag for-review tag was added to gene: VPS4A.
Intellectual disability v3.754 VPS4A Ivone Leong Classified gene: VPS4A as Amber List (moderate evidence)
Intellectual disability v3.754 VPS4A Ivone Leong Gene: vps4a has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.753 VPS4A Ivone Leong Publications for gene: VPS4A were set to (PMID: 33186545; 33186543; 33460484)
Haematological malignancies cancer susceptibility v2.15 CSF3R Arina Puzriakova Classified gene: CSF3R as Red List (low evidence)
Haematological malignancies cancer susceptibility v2.15 CSF3R Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge). Rating Red as increased risk of AML due to CSF3R is associated with acquired rather than hereditary variants. One individual from PMID: 19620628 did develop a myelodysplastic syndrome, however this is not sufficient to promote this gene at present.
Haematological malignancies cancer susceptibility v2.15 CSF3R Arina Puzriakova Gene: csf3r has been classified as Red List (Low Evidence).
Genomic imprinting v0.89 SDHD Sarah Leigh commented on gene: SDHD: Differing opinions on the role of SDHD in imprinting have been reported: PMID 15064708 reports "paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD". PMID 11391796 reports two affected males, with differing variants transmitted paraganglioma to their children and that monoallelic expression of the mutant (paternal) allele was observed in one case. Also an affected female had 2 unaffected children, consistent with genomic imprinting. However, PMID 18211978 reports maternal transmission of a SDHD-linked paraganglioma to her son, who displayed hypermethylation.
Haematological malignancies cancer susceptibility v2.14 CSF3R Arina Puzriakova Phenotypes for gene: CSF3R were changed from MDS; Myeloma; B-ALL to Acute myeloid leukaemia; Hereditary neutrophilia; Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Haematological malignancies cancer susceptibility v2.13 CSF3R Arina Puzriakova Publications for gene: CSF3R were set to PMID: 27939403
Haematological malignancies cancer susceptibility v2.12 CSF3R Arina Puzriakova Tag somatic tag was added to gene: CSF3R.
Haematological malignancies cancer susceptibility v2.12 CSF3R Arina Puzriakova reviewed gene: CSF3R: Rating: ; Mode of pathogenicity: None; Publications: 19620628, 12203110, 24753537, 26324699; Phenotypes: Acute myeloid leukaemia, Hereditary neutrophilia, Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.89 SDHD Sarah Leigh Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Genomic imprinting v0.88 SDHD Sarah Leigh Publications for gene: SDHD were set to 10657297; 11391796; 30536464; 15064708
Genomic imprinting v0.87 SDHD Sarah Leigh Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.86 SDHD Sarah Leigh Publications for gene: SDHD were set to 10657297; 11391796; 30536464
Genomic imprinting v0.85 NOTCH1 Sarah Leigh Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.84 NOTCH1 Sarah Leigh commented on gene: NOTCH1
Haematological malignancies cancer susceptibility v2.12 MBD4 Arina Puzriakova Classified gene: MBD4 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v2.12 MBD4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge) with a Green expert review rating.

Studies indicate that while germline MBD4 deficiency alone does not drive malignant transformation, it may alter the mutational spectrum and in turn modify susceptibility and predisposition to cancers such as AML.

Therefore, rating this gene as Amber with the recommendation of review by the GMS team with regards to whether such alterations are within the scope of this panel (added 'for-review' tag)
Haematological malignancies cancer susceptibility v2.12 MBD4 Arina Puzriakova Gene: mbd4 has been classified as Amber List (Moderate Evidence).
Genomic imprinting v0.84 NLRP5 Sarah Leigh commented on gene: NLRP5: Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP5 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 NLRP2 Sarah Leigh commented on gene: NLRP2: Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP2 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 KHDC3L Sarah Leigh commented on gene: KHDC3L: Comments from Prof Ian Morison (Department of Pathology, University of Otago) KHDC3L is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 EZH2 Sarah Leigh commented on gene: EZH2: Comments from Prof Ian Morison (Department of Pathology, University of Otago) EZH2 is a component of the Polycomb-group complex. Required for the establishment of imprinting, but not imprinted itself.
Haematological malignancies cancer susceptibility v2.11 MBD4 Arina Puzriakova Tag for-review tag was added to gene: MBD4.
Haematological malignancies cancer susceptibility v2.11 MBD4 Arina Puzriakova reviewed gene: MBD4: Rating: ; Mode of pathogenicity: None; Publications: 30049810; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic imprinting v0.84 EZH2 Sarah Leigh Deleted their comment
Genomic imprinting v0.84 EZH2 Sarah Leigh changed review comment from: Comment on list classification: EZH2 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Weaver syndrome 277590 is not proven.; to: Comment on list classification: EZH2 has been rated Red on this panel,
Genomic imprinting v0.84 EZH2 Sarah Leigh Classified gene: EZH2 as Red List (low evidence)
Genomic imprinting v0.84 EZH2 Sarah Leigh Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic imprinting v0.83 SIX3 Sarah Leigh Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic imprinting v0.82 SIX3 Sarah Leigh changed review comment from: Comment on list classification: SIX3 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.; to: Comment on list classification: SIX3 has been rated as Red rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not certain.
Genomic imprinting v0.82 SIX3 Sarah Leigh Classified gene: SIX3 as Red List (low evidence)
Genomic imprinting v0.82 SIX3 Sarah Leigh Gene: six3 has been classified as Red List (Low Evidence).
Genomic imprinting v0.81 ZFP57 Sarah Leigh Classified gene: ZFP57 as Green List (high evidence)
Genomic imprinting v0.81 ZFP57 Sarah Leigh Gene: zfp57 has been classified as Green List (High Evidence).
Genomic imprinting v0.80 ZFP57 Sarah Leigh Phenotypes for gene: ZFP57 were changed from Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1; Multi-locus imprinting disorder; Affected tissue: pancreatic beta-cells (prenatal growth restriction) to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance
Growth failure in early childhood v1.56 ZFP57 Sarah Leigh Phenotypes for gene: ZFP57 were changed from Phenotypes consistent with hypomethylation at multiple imprinted loci to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance
Growth failure in early childhood v1.55 ZFP57 Sarah Leigh reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic imprinting v0.79 ZFP57 Sarah Leigh reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematological malignancies cancer susceptibility v2.11 IKZF1 Arina Puzriakova edited their review of gene: IKZF1: Changed publications: 26981933, 28096536, 29889099, 29681510
Haematological malignancies cancer susceptibility v2.11 IKZF1 Arina Puzriakova Publications for gene: IKZF1 were set to PMID: 29681510; PMID: 29889099; PMID: 27939403
Haematological malignancies cancer susceptibility v2.10 IKZF1 Arina Puzriakova Classified gene: IKZF1 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v2.10 IKZF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge). Several studies indicate that coding germline IKZF1 variants are a risk factor for genetic predisposition to ALL. Therefore, this gene may be promoted to Green at the next panel update following GMS review (added 'for-review' tag)
Haematological malignancies cancer susceptibility v2.10 IKZF1 Arina Puzriakova Gene: ikzf1 has been classified as Amber List (Moderate Evidence).
Haematological malignancies cancer susceptibility v2.9 IKZF1 Arina Puzriakova Tag for-review tag was added to gene: IKZF1.
Haematological malignancies cancer susceptibility v2.9 IKZF1 Arina Puzriakova reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26981933, 28096536, 29681510; Phenotypes: Acute lymphoblastic leukemia (ALL), Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Growth failure in early childhood v1.55 KHDC3L Sarah Leigh Tag for-review was removed from gene: KHDC3L.
Tag watchlist tag was added to gene: KHDC3L.
Genomic imprinting v0.79 KHDC3L Sarah Leigh Phenotypes for gene: KHDC3L were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life) to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss Affected tissue: all (incompatible with life)
Growth failure in early childhood v1.55 KHDC3L Sarah Leigh Phenotypes for gene: KHDC3L were changed from IUGR; Failure to thrive; hydatidiform mole; pregnancy loss to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss
Genomic imprinting v0.78 KHDC3L Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.78 KHDC3L Sarah Leigh Mode of inheritance for gene: KHDC3L was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Growth failure in early childhood v1.54 KHDC3L Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Growth failure in early childhood v1.54 KHDC3L Sarah Leigh Mode of inheritance for gene: KHDC3L was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.43 CFTR Matthew Edwards reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Haematological malignancies cancer susceptibility v2.9 IKZF1 Arina Puzriakova Phenotypes for gene: IKZF1 were changed from B-ALL; immunodeficiency, autoimmunity to Acute lymphoblastic leukaemia (ALL); Immunodeficiency, common variable, 13, OMIM:616873
Growth failure in early childhood v1.53 PADI6 Sarah Leigh Phenotypes for gene: PADI6 were changed from Short stature; IUGR; miscarriages in the family; beckwith weidemann syndrome in the family to Short stature; IUGR; miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance
Genomic imprinting v0.77 PADI6 Sarah Leigh Phenotypes for gene: PADI6 were changed from Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance to Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance
Haematological malignancies cancer susceptibility v2.8 DNAJC21 Arina Puzriakova Tag for-review tag was added to gene: DNAJC21.
Haematological malignancies cancer susceptibility v2.8 DNAJC21 Arina Puzriakova Publications for gene: DNAJC21 were set to PMID: 27346687; PMID: 29700810
Haematological malignancies cancer susceptibility v2.7 DNAJC21 Arina Puzriakova Classified gene: DNAJC21 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v2.7 DNAJC21 Arina Puzriakova Added comment: Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge) with a Green expert review rating.

Biallelic variants in the DNAJC21 gene are associated with bone marrow failure syndrome-3 (MIM# 617052). At least 15 individuals reported in literature (PMIDs: 27346687; 28062395; 29146883; 29700810), of which only one developed acute myeloid leukaemia (AML-M7), at the age of 12 years (P3 in PMID: 27346687). However, it should be considered that the remaining cases were all children (14 mo - 14 yrs of age) and so the risk of malignancy later in life remains.

BMF syndromes can be associated with an increased cancer risk, and in parallel with the Green expert review, DNAJC21 will be flagged for GMS review to assess whether there is substantial evidence to rate this gene Green on this panel.
Haematological malignancies cancer susceptibility v2.7 DNAJC21 Arina Puzriakova Gene: dnajc21 has been classified as Amber List (Moderate Evidence).
Genomic imprinting v0.76 PADI6 Sarah Leigh Phenotypes for gene: PADI6 were changed from Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance
Genomic imprinting v0.75 PADI6 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.75 PADI6 Sarah Leigh Mode of inheritance for gene: PADI6 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.74 PADI6 Sarah Leigh Classified gene: PADI6 as Green List (high evidence)
Genomic imprinting v0.74 PADI6 Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of PADI6 variants in Multi Locus Imprinting Disturbances.
Genomic imprinting v0.74 PADI6 Sarah Leigh Gene: padi6 has been classified as Green List (High Evidence).
Growth failure in early childhood v1.52 NLRP7 Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP7 variants in Multi Locus Imprinting Disturbance
Growth failure in early childhood v1.52 NLRP7 Sarah Leigh edited their review of gene: NLRP7: Changed rating: GREEN
Genomic imprinting v0.73 NLRP7 Sarah Leigh Classified gene: NLRP7 as Green List (high evidence)
Genomic imprinting v0.73 NLRP7 Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP7 variants in Multi Locus Imprinting Disturbances.
Genomic imprinting v0.73 NLRP7 Sarah Leigh Gene: nlrp7 has been classified as Green List (High Evidence).
Genomic imprinting v0.72 NLRP5 Sarah Leigh Classified gene: NLRP5 as Green List (high evidence)
Genomic imprinting v0.72 NLRP5 Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP5 variants in Multi Locus Imprinting Disturbances.
Genomic imprinting v0.72 NLRP5 Sarah Leigh Gene: nlrp5 has been classified as Green List (High Evidence).
Growth failure in early childhood v1.52 NLRP5 Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust), as variants in this gene are associated with Multi Locus Imprinting Disturbances. .; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP5 variants in Multi Locus Imprinting Disturbance
Growth failure in early childhood v1.52 NLRP7 Sarah Leigh Phenotypes for gene: NLRP7 were changed from IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance; Hydatidiform mole, recurrent, 1 OMIM:231090; hydatidiform mole, recurrent, 1 MONDO:0009273
Genomic imprinting v0.71 NLRP7 Sarah Leigh Phenotypes for gene: NLRP7 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance to Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance; hydatidiform mole, recurrent, 1 MONDO:0009273
Genomic imprinting v0.70 NLRP7 Sarah Leigh Phenotypes for gene: NLRP7 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life) to Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance
Growth failure in early childhood v1.51 NLRP7 Sarah Leigh Phenotypes for gene: NLRP7 were changed from IUGR; Short stature; fetal wastage to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance
Growth failure in early childhood v1.50 NLRP7 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Growth failure in early childhood v1.50 NLRP7 Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.69 NLRP7 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.69 NLRP7 Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.68 NLRP5 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.68 NLRP5 Sarah Leigh Mode of inheritance for gene: NLRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Growth failure in early childhood v1.49 NLRP5 Sarah Leigh Phenotypes for gene: NLRP5 were changed from IUGR; Short stature; Failure to thrive; body asymmetry to IUGR; Short stature; Failure to thrive; body asymmetry; multilocus imprinting disturbances
Growth failure in early childhood v1.48 NLRP5 Sarah Leigh edited their review of gene: NLRP5: Changed rating: GREEN
Growth failure in early childhood v1.48 NLRP5 Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust), as variants in this gene are associated with Multi Locus Imprinting Disturbances. .
Growth failure in early childhood v1.48 NLRP2 Sarah Leigh Deleted their comment
Genomic imprinting v0.67 NLRP2 Sarah Leigh Tag watchlist tag was added to gene: NLRP2.
Genomic imprinting v0.67 NLRP2 Sarah Leigh changed review comment from: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.

Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021
Genomic imprinting v0.67 NLRP2 Sarah Leigh commented on gene: NLRP2: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021
Growth failure in early childhood v1.48 NLRP2 Sarah Leigh Tag watchlist tag was added to gene: NLRP2.
Growth failure in early childhood v1.48 NLRP2 Sarah Leigh edited their review of gene: NLRP2: Added comment: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.; Changed rating: AMBER
Genomic imprinting v0.67 NLRP2 Sarah Leigh Added comment: Comment on mode of inheritance: The MOI based on review by Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.67 NLRP2 Sarah Leigh Mode of inheritance for gene: NLRP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Haematological malignancies cancer susceptibility v2.6 DNAJC21 Arina Puzriakova Phenotypes for gene: DNAJC21 were changed from bone marrow failure; AML; developmental delay; pancreatic insufficiency, overlap with SBDS to Bone marrow failure syndrome 3, OMIM:617052; Bone marrow failure syndrome 3, MONDO:0014887
Intellectual disability v3.752 ADAM22 Sarah Leigh Phenotypes for gene: ADAM22 were changed from to ?Epileptic encephalopathy, early infantile, 61 OMIM:617933; developmental and epileptic encephalopathy, 61 MONDO:0033370
Intellectual disability v3.751 ADAM22 Sarah Leigh Tag for-review tag was added to gene: ADAM22.
Intellectual disability v3.751 ADAM22 Sarah Leigh reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic epilepsy syndromes v2.288 ADAM22 Sarah Leigh Tag for-review tag was added to gene: ADAM22.
Genetic epilepsy syndromes v2.288 ADAM22 Sarah Leigh reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic epilepsy syndromes v2.288 ADAM22 Sarah Leigh Phenotypes for gene: ADAM22 were changed from ?Epileptic encephalopathy, early infantile, 61 OMIM:617933 to ?Epileptic encephalopathy, early infantile, 61 OMIM:617933; developmental and epileptic encephalopathy, 61 MONDO:0033370
Genetic epilepsy syndromes v2.287 ADAM22 Sarah Leigh Tag watchlist tag was added to gene: ADAM22.
Fetal anomalies v1.612 SUFU Arina Puzriakova changed review comment from: The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. This gene will be flagged for review by the GMS team with regards to whether these features may conceivably be detected prenatally (added 'for-review' tag).

Note that these individuals harboured heterozygous truncating variants, and monoallelic variants in this gene have also previously been associated with Basal cell nevus syndrome and Medulloblastoma.; to: SUFU was reassessed in line with the recent expert review by Rhiannon Mellis (GOSH). The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. However, it is unclear whether these features may conceivably be detected prenatally and therefore this gene will be flagged for review by the GMS team with regards to phenotypic fit for this panel (added 'for-review' tag).

Note that unlike the 2 Joubert syndrome families with biallelic variants reported by De Mori et al. (2017, PMID: 28965847), these individuals harboured heterozygous truncating variants in the SUFU gene. Monoallelic variants have previously been associated with basal cell nevus syndrome and medulloblastoma, and there was no evidence of tumours in any of the families described by Schroder et al.
Proteinuric renal disease v2.48 APOL1 Eleanor Williams Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuric renal disease v2.48 APOL1 Eleanor Williams Added comment: Comment on list classification: Changing the rating from red to amber, following review and proposal for green by Natalie Forrester. It should be considered for green rating following GMS review.
Proteinuric renal disease v2.48 APOL1 Eleanor Williams Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v2.47 APOL1 Eleanor Williams Phenotypes for gene: APOL1 were changed from Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551 to {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551; {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551
Proteinuric renal disease v2.46 APOL1 Eleanor Williams Mode of inheritance for gene: APOL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.612 SUFU Arina Puzriakova commented on gene: SUFU
Genetic epilepsy syndromes v2.287 GALNT2 Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, depending on the policy of inclusion of metabolic genes on this panel.; to: Comment on list classification:
For-review tag has been added to highlight that there is enough evidence for this gene to be rated GREEN at the next major review, depending on the policy of inclusion of metabolic genes on this panel.
Genetic epilepsy syndromes v2.287 GALNT2 Sarah Leigh Deleted their comment
Genetic epilepsy syndromes v2.287 GALNT2 Sarah Leigh commented on gene: GALNT2: For-review tag has been added to highlight whether this gene should be green on this panel due to the uncoupling of metabolic genes from Genetic epilepsy syndromes panel.
Proteinuric renal disease v2.45 APOL1 Eleanor Williams Publications for gene: APOL1 were set to 20647424
Genetic epilepsy syndromes v2.287 ALG14 Sarah Leigh commented on gene: ALG14: For-review tag has been added to highlight whether this gene should be green on this panel due to the uncoupling of metabolic genes from Genetic epilepsy syndromes panel.
Proteinuric renal disease v2.44 APOL1 Eleanor Williams Tag for-review tag was added to gene: APOL1.
Fetal anomalies v1.612 SUFU Arina Puzriakova Tag for-review tag was added to gene: SUFU.
Fetal anomalies v1.612 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v1.611 SUFU Arina Puzriakova Publications for gene: SUFU were set to 28965847
Fetal anomalies v1.610 SUFU Arina Puzriakova Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Rare anaemia v1.9 VPS4A Evan Reid gene: VPS4A was added
gene: VPS4A was added to Rare anaemia. Sources: Literature,Research
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to (PMID: 33186545; 33186543; 33460484)
Phenotypes for gene: VPS4A were set to developmental delay; intellectual disability; cerebellar hypoplasia; pontine hypoplasia; thin corpus callosum; microcephaly; growth retardation; congenital anaemia; dyserythropeoitic anaemia; dystonia; congenital cataracts; deafness
Penetrance for gene: VPS4A were set to Complete
Mode of pathogenicity for gene: VPS4A 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: VPS4A was set to GREEN
Added comment: Multiple families (now 10) described with a consistent phenotype (termed CIMDAG as an acronym for the major features). This includes congenital anaemia in most cases, in some cases this is of a dyserythropoeitic type. All have de novo heterozygous missense mutations of VPS4A, with a distinct mutational hotspot (R284) in many families. Mechanism is likely dominant negative. Haplo-insufficiency of VPS4A is tolerated and present in general population databases, so loss of function mutations likely do not cause this disease.
Sources: Literature, Research
Intellectual disability v3.751 VPS4A Evan Reid changed review comment from: Multiple families (now 10) described with a consistent phenotype (we have termed it CIMDAG as an acronym for the major features). All have de novo heterozygous missense mutations of VPS4A, with a distinct mutational hotspot (R284) in many families. Mechanism is likely dominant negative. Haplo-insufficiency of VPS4A is tolerated and present in general population databases, so loss of function mutations likely do not cause this disease.
Sources: Literature, Research; to: Multiple families (now 10) described with a consistent phenotype (termed CIMDAG as an acronym for the major features). All have de novo heterozygous missense mutations of VPS4A, with a distinct mutational hotspot (R284) in many families. Mechanism is likely dominant negative. Haplo-insufficiency of VPS4A is tolerated and present in general population databases, so loss of function mutations likely do not cause this disease.
Sources: Literature, Research
Intellectual disability v3.751 VPS4A Evan Reid gene: VPS4A was added
gene: VPS4A was added to Intellectual disability. Sources: Literature,Research
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to (PMID: 33186545; 33186543; 33460484)
Phenotypes for gene: VPS4A were set to developmental delay; intellectual disability; cerebellar hypoplasia; pontine hypoplasia; thin corpus callosum; microcephaly; growth retardation; congenital anaemia; dyserythropeoitic anaemia; dystonia; congenital cataracts; deafness
Penetrance for gene: VPS4A were set to Complete
Mode of pathogenicity for gene: VPS4A 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: VPS4A was set to GREEN
Added comment: Multiple families (now 10) described with a consistent phenotype (we have termed it CIMDAG as an acronym for the major features). All have de novo heterozygous missense mutations of VPS4A, with a distinct mutational hotspot (R284) in many families. Mechanism is likely dominant negative. Haplo-insufficiency of VPS4A is tolerated and present in general population databases, so loss of function mutations likely do not cause this disease.
Sources: Literature, Research
Severe microcephaly v2.98 COASY Sarah Leigh edited their review of gene: COASY: Changed rating: GREEN
Severe microcephaly v2.98 COASY Sarah Leigh Classified gene: COASY as Amber List (moderate evidence)
Severe microcephaly v2.98 COASY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Severe microcephaly v2.98 COASY Sarah Leigh Gene: coasy has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.97 COASY Sarah Leigh Publications for gene: COASY were set to 30089828; 24360804
Severe microcephaly v2.96 COASY Sarah Leigh Tag for-review tag was added to gene: COASY.
Severe microcephaly v2.96 COASY Sarah Leigh commented on gene: COASY: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen (although it has a confirmed associated with Neurodegeneration with brain iron accumulation 6 OMIM:615643, PMID 24360804). At least two terminating variants have been reported in four cases of Pontocerebellar hypoplasia, type 12 OMIM:618266 in two unrelated families (PMID 30089828). Segregation and supportive functional studies were reported, together with a zebrafish morpholino knockdown, where the lack of COASY expression was rescued by addition of CoA to the water or by injection of CoA in the brain ventricle (PMID 27892483). It was proposed that the human fetuses survived gestation due to exposure to maternal CoA (PMID 30089828).
Severe microcephaly v2.96 COASY Sarah Leigh Added comment: Comment on phenotypes: Variants are also associated with Neurodegeneration with brain iron accumulation 6 OMIM:615643, but this phenotype is not relevant to the Severe microcephaly panel (PMID 24360804).
Severe microcephaly v2.96 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12 OMIM:618266 to Pontocerebellar hypoplasia, type 12 OMIM:618266
Fetal anomalies v1.609 SMPD4 Arina Puzriakova Phenotypes for gene: SMPD4 were changed from Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838
Fetal anomalies v1.608 SMPD4 Arina Puzriakova Publications for gene: SMPD4 were set to PMID: 31495489
Fetal anomalies v1.607 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; H syndrome, MONDO:0011273
Fetal anomalies v1.606 SLC18A3 Arina Puzriakova Phenotypes for gene: SLC18A3 were changed from Myasthenic syndrome, congenital, 21, presynaptic to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983
Fetal anomalies v1.605 SLC18A3 Arina Puzriakova Publications for gene: SLC18A3 were set to PMID: 31059209
Fetal anomalies v1.604 SIX6 Arina Puzriakova Phenotypes for gene: SIX6 were changed from Optic disc anomalies with retinal and/or macular dystrophy to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Classified gene: SMPD4 as Amber List (moderate evidence)
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.602 SMPD4 Arina Puzriakova Tag for-review tag was added to gene: SMPD4.
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Classified gene: SLC29A3 as Amber List (moderate evidence)
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.601 SLC29A3 Arina Puzriakova Tag for-review tag was added to gene: SLC29A3.
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Classified gene: SLC18A3 as Amber List (moderate evidence)
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.600 SLC18A3 Arina Puzriakova Tag for-review tag was added to gene: SLC18A3.
Fetal anomalies v1.600 SIX6 Arina Puzriakova Classified gene: SIX6 as Amber List (moderate evidence)
Fetal anomalies v1.600 SIX6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.600 SIX6 Arina Puzriakova Gene: six6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.599 SIX6 Arina Puzriakova Tag for-review tag was added to gene: SIX6.
Fetal anomalies v1.599 SLC5A7 Arina Puzriakova Phenotypes for gene: SLC5A7 were changed from Congenital Myasthenic Syndrome with Episodic Apnea to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143; Congenital myasthenic syndrome 20, MONDO:0014939
Fetal anomalies v1.598 TSFM Catherine Snow Publications for gene: TSFM were set to
Fetal anomalies v1.597 SLC5A7 Arina Puzriakova Publications for gene: SLC5A7 were set to
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Classified gene: SLC5A7 as Amber List (moderate evidence)
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Gene: slc5a7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.595 SLC5A7 Arina Puzriakova Tag for-review tag was added to gene: SLC5A7.
Fetal anomalies v1.595 SMS Arina Puzriakova Phenotypes for gene: SMS were changed from SNYDER-ROBINSON SYNDROME to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Fetal anomalies v1.594 TSFM Catherine Snow Tag for-review tag was added to gene: TSFM.
Fetal anomalies v1.594 SLC25A19 Arina Puzriakova Phenotypes for gene: SLC25A19 were changed from AMISH LETHAL MICROCEPHALY to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790
Fetal anomalies v1.593 TSFM Catherine Snow Classified gene: TSFM as Amber List (moderate evidence)
Fetal anomalies v1.593 TSFM Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.593 TSFM Catherine Snow Gene: tsfm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.592 SMS Arina Puzriakova Classified gene: SMS as Amber List (moderate evidence)
Fetal anomalies v1.592 SMS Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.592 SMS Arina Puzriakova Gene: sms has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.591 TSEN34 Catherine Snow Tag for-review tag was added to gene: TSEN34.
Fetal anomalies v1.591 SMS Arina Puzriakova Tag for-review tag was added to gene: SMS.
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Classified gene: SLC25A19 as Amber List (moderate evidence)
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.590 TSEN34 Catherine Snow Classified gene: TSEN34 as Amber List (moderate evidence)
Fetal anomalies v1.590 TSEN34 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.590 TSEN34 Catherine Snow Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.589 SLC25A19 Arina Puzriakova Tag for-review tag was added to gene: SLC25A19.
Fetal anomalies v1.589 SHANK3 Arina Puzriakova Phenotypes for gene: SHANK3 were changed from PHELAN-MCDERMID SYNDROME to Phelan-McDermid syndrome, OMIM:606232; Phelan-McDermid syndrome, MONDO:0011652
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Classified gene: SHANK3 as Amber List (moderate evidence)
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Gene: shank3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.587 TSEN2 Catherine Snow Tag for-review tag was added to gene: TSEN2.
Fetal anomalies v1.587 SHANK3 Arina Puzriakova Tag for-review tag was added to gene: SHANK3.
Fetal anomalies v1.587 TSEN2 Catherine Snow Classified gene: TSEN2 as Amber List (moderate evidence)
Fetal anomalies v1.587 TSEN2 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.587 TSEN2 Catherine Snow Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.586 SGCG Arina Puzriakova Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, autosomal recessive 5 to Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677
Fetal anomalies v1.585 TRMT10A Catherine Snow Tag for-review tag was added to gene: TRMT10A.
Fetal anomalies v1.585 TRMT10A Catherine Snow Classified gene: TRMT10A as Amber List (moderate evidence)
Fetal anomalies v1.585 TRMT10A Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.585 TRMT10A Catherine Snow Gene: trmt10a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.584 SERPINH1 Arina Puzriakova Phenotypes for gene: SERPINH1 were changed from Osteogenesis imperfecta, type X to Osteogenesis imperfecta, type X, OMIM:613848; Osteogenesis imperfecta type 10, MONDO:0013459
Fetal anomalies v1.583 TRAP1 Catherine Snow Tag for-review tag was added to gene: TRAP1.
Fetal anomalies v1.583 SERPINF1 Arina Puzriakova Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515
Fetal anomalies v1.582 TRAP1 Catherine Snow Publications for gene: TRAP1 were set to
Fetal anomalies v1.581 SGCG Arina Puzriakova Classified gene: SGCG as Amber List (moderate evidence)
Fetal anomalies v1.581 SGCG Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.581 SGCG Arina Puzriakova Gene: sgcg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.580 SGCG Arina Puzriakova Tag for-review tag was added to gene: SGCG.
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Classified gene: SERPINH1 as Amber List (moderate evidence)
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Gene: serpinh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.579 SERPINH1 Arina Puzriakova Tag for-review tag was added to gene: SERPINH1.
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Classified gene: SERPINF1 as Amber List (moderate evidence)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Gene: serpinf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.578 SERPINF1 Arina Puzriakova Tag for-review tag was added to gene: SERPINF1.
Fetal anomalies v1.578 TRAP1 Catherine Snow Classified gene: TRAP1 as Amber List (moderate evidence)
Fetal anomalies v1.578 TRAP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.578 TRAP1 Catherine Snow Gene: trap1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.577 TOE1 Arina Puzriakova Phenotypes for gene: TOE1 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993
Fetal anomalies v1.576 TOE1 Arina Puzriakova Classified gene: TOE1 as Amber List (moderate evidence)
Fetal anomalies v1.576 TOE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.576 TOE1 Arina Puzriakova Gene: toe1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.575 TOE1 Arina Puzriakova Tag for-review tag was added to gene: TOE1.
Fetal anomalies v1.575 TRAIP Catherine Snow Publications for gene: TRAIP were set to
Fetal anomalies v1.574 TRAIP Catherine Snow Classified gene: TRAIP as Amber List (moderate evidence)
Fetal anomalies v1.574 TRAIP Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.574 TRAIP Catherine Snow Gene: traip has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.573 TRAIP Catherine Snow Tag for-review tag was added to gene: TRAIP.
Fetal anomalies v1.573 TRAIP Catherine Snow Phenotypes for gene: TRAIP were changed from PRIMORDIAL DWARFISM to Seckel syndrome 9
Fetal anomalies v1.572 TELO2 Arina Puzriakova Phenotypes for gene: TELO2 were changed from TELO2 Syndromic Intellectual Disability Disorder to You-Hoover-Fong syndrome, OMIM:616954; TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
Fetal anomalies v1.571 TELO2 Arina Puzriakova Classified gene: TELO2 as Amber List (moderate evidence)
Fetal anomalies v1.571 TELO2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.571 TELO2 Arina Puzriakova Gene: telo2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.570 TELO2 Arina Puzriakova Tag for-review tag was added to gene: TELO2.
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Tag for-review tag was added to gene: TRAF3IP1.
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Classified gene: TRAF3IP1 as Amber List (moderate evidence)
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Gene: traf3ip1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.569 STIL Arina Puzriakova Phenotypes for gene: STIL were changed from MICROCEPHALY PRIMARY TYPE 7 to Microcephaly 7, primary, autosomal recessive, OMIM:612703; Microcephaly 7, primary, autosomal recessive, MONDO:0012989
Fetal anomalies v1.568 STIL Arina Puzriakova Publications for gene: STIL were set to
Fetal anomalies v1.567 STIL Arina Puzriakova Classified gene: STIL as Amber List (moderate evidence)
Fetal anomalies v1.567 STIL Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.567 STIL Arina Puzriakova Gene: stil has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.566 STIL Arina Puzriakova Tag for-review tag was added to gene: STIL.
Fetal anomalies v1.566 SPARC Arina Puzriakova Phenotypes for gene: SPARC were changed from OSTEOGENESIS IMPERFECTA, TYPE XVII to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672
Fetal anomalies v1.565 SPECC1L Arina Puzriakova Phenotypes for gene: SPECC1L were changed from FACIAL CLEFTING, OBLIQUE, 1 to ?Facial clefting, oblique, 1, OMIM:600251; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
Fetal anomalies v1.564 ST14 Arina Puzriakova Phenotypes for gene: ST14 were changed from ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS to Ichthyosis, congenital, autosomal recessive 11, OMIM:602400; Autosomal recessive congenital ichthyosis 11, MONDO:0011218
Fetal anomalies v1.563 ST14 Arina Puzriakova Classified gene: ST14 as Amber List (moderate evidence)
Fetal anomalies v1.563 ST14 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.563 ST14 Arina Puzriakova Gene: st14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.562 ST14 Arina Puzriakova Tag for-review tag was added to gene: ST14.
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Classified gene: SPECC1L as Amber List (moderate evidence)
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Gene: specc1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.561 SPECC1L Arina Puzriakova Tag for-review tag was added to gene: SPECC1L.
Fetal anomalies v1.561 SPARC Arina Puzriakova Classified gene: SPARC as Amber List (moderate evidence)
Fetal anomalies v1.561 SPARC Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.561 SPARC Arina Puzriakova Gene: sparc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.560 SPARC Arina Puzriakova Tag for-review tag was added to gene: SPARC.
Severe microcephaly v2.95 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis to Pontocerebellar hypoplasia, type 12 OMIM:618266
Fetal anomalies v1.560 TUBB3 Catherine Snow Publications for gene: TUBB3 were set to
Fetal anomalies v1.559 TUBB3 Catherine Snow Tag for-review tag was added to gene: TUBB3.
Fetal anomalies v1.559 TUBB3 Catherine Snow Classified gene: TUBB3 as Amber List (moderate evidence)
Fetal anomalies v1.559 TUBB3 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.559 TUBB3 Catherine Snow Gene: tubb3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.558 TUBG1 Catherine Snow Tag for-review tag was added to gene: TUBG1.
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Classified gene: TBC1D32 as Amber List (moderate evidence)
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). There are sufficient unrelated cases with a fetally-relevant phenotype and biallelic variants in TBC1D32 to promoted this gene to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.557 TUBG1 Catherine Snow Classified gene: TUBG1 as Amber List (moderate evidence)
Fetal anomalies v1.557 TUBG1 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.557 TUBG1 Catherine Snow Gene: tubg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.556 TUBG1 Catherine Snow Publications for gene: TUBG1 were set to
Fetal anomalies v1.555 TBC1D32 Arina Puzriakova Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Fetal anomalies v1.554 TUBGCP4 Catherine Snow Publications for gene: TUBGCP4 were set to
Fetal anomalies v1.553 TBC1D32 Arina Puzriakova Tag for-review tag was added to gene: TBC1D32.
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Tag for-review tag was added to gene: TUBGCP4.
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Classified gene: TUBGCP4 as Amber List (moderate evidence)
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.552 TXNDC15 Catherine Snow Tag for-review tag was added to gene: TXNDC15.
Fetal anomalies v1.552 TXNDC15 Catherine Snow Publications for gene: TXNDC15 were set to
Fetal anomalies v1.551 TXNDC15 Catherine Snow Classified gene: TXNDC15 as Amber List (moderate evidence)
Fetal anomalies v1.551 TXNDC15 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.551 TXNDC15 Catherine Snow Gene: txndc15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.550 UBE2T Catherine Snow Classified gene: UBE2T as Amber List (moderate evidence)
Fetal anomalies v1.550 UBE2T Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.550 UBE2T Catherine Snow Gene: ube2t has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.549 UBE2T Catherine Snow Tag for-review tag was added to gene: UBE2T.
Fetal anomalies v1.549 UBE2T Catherine Snow Publications for gene: UBE2T were set to
Fetal anomalies v1.548 STRADA Arina Puzriakova Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Fetal anomalies v1.547 STRADA Arina Puzriakova Classified gene: STRADA as Amber List (moderate evidence)
Fetal anomalies v1.547 STRADA Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.547 STRADA Arina Puzriakova Gene: strada has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.546 STRADA Arina Puzriakova Tag for-review tag was added to gene: STRADA.
Fetal anomalies v1.546 STAC3 Arina Puzriakova Publications for gene: STAC3 were set to PMID: 30168660
Fetal anomalies v1.545 STAC3 Arina Puzriakova Phenotypes for gene: STAC3 were changed from Myopathy, congenital, Baily-Bloch to Myopathy, congenital, Baily-Bloch, OMIM:255995; Bailey-Bloch congenital myopathy, MONDO:0009722
Fetal anomalies v1.544 STAC3 Arina Puzriakova Classified gene: STAC3 as Amber List (moderate evidence)
Fetal anomalies v1.544 STAC3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.544 STAC3 Arina Puzriakova Gene: stac3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.543 STAC3 Arina Puzriakova Tag for-review tag was added to gene: STAC3.
Fetal anomalies v1.543 SEC24D Ivone Leong commented on gene: SEC24D
Fetal anomalies v1.543 SEC24D Ivone Leong Tag for-review tag was added to gene: SEC24D.
Fetal anomalies v1.543 SP7 Arina Puzriakova Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, OMIM:613849; Osteogenesis imperfecta type 12, MONDO:0013460
Fetal anomalies v1.542 SOX6 Arina Puzriakova Phenotypes for gene: SOX6 were changed from Tolchin-Le Caignec syndrome to Tolchin-Le Caignec syndrome, OMIM:618971; Tolchin-Le Caignec syndrome, MONDO:0033544
Fetal anomalies v1.541 SOX18 Arina Puzriakova Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
Fetal anomalies v1.540 SNX10 Arina Puzriakova Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085; Autosomal recessive osteopetrosis 8, MONDO:0014040
Genetic epilepsy syndromes v2.287 TET3 Sarah Leigh changed review comment from: Taking account the review of Helen Lord and Konstantinos Varvagiannis, there is not enough convincing evidence for this gene to be rated GREEN on the Genetic epilepsy syndromes panel. The "for-review" tag has been replaced with the "watchlist" tag to highlight that further cases with seizures are needed for this gene to be rated Green on this panel.; to: Taking account the review of Helen Lord and Konstantinos Varvagiannis, there is not enough convincing evidence for this gene to be rated GREEN on the Genetic epilepsy syndromes panel. The "for-review" tag has been removed. The "watchlist" tag will remain to highlight that further cases with seizures are needed for this gene to be rated Green on this panel.
Fetal anomalies v1.539 SP7 Arina Puzriakova Classified gene: SP7 as Amber List (moderate evidence)
Fetal anomalies v1.539 SP7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.539 SP7 Arina Puzriakova Gene: sp7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.538 SP7 Arina Puzriakova Tag for-review tag was added to gene: SP7.
Fetal anomalies v1.538 SOX6 Arina Puzriakova Classified gene: SOX6 as Amber List (moderate evidence)
Fetal anomalies v1.538 SOX6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.538 SOX6 Arina Puzriakova Gene: sox6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.537 SOX6 Arina Puzriakova Tag for-review tag was added to gene: SOX6.
Genetic epilepsy syndromes v2.287 TET3 Sarah Leigh Tag for-review was removed from gene: TET3.
Fetal anomalies v1.537 SOX18 Arina Puzriakova Classified gene: SOX18 as Amber List (moderate evidence)
Fetal anomalies v1.537 SOX18 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.537 SOX18 Arina Puzriakova Gene: sox18 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.536 SOX18 Arina Puzriakova Tag for-review tag was added to gene: SOX18.
Genetic epilepsy syndromes v2.287 TET3 Sarah Leigh changed review comment from: There is enough evidence for this gene to be rated GREEN at the next major review.; to: Taking account the review of Helen Lord and Konstantinos Varvagiannis, there is not enough convincing evidence for this gene to be rated GREEN on the Genetic epilepsy syndromes panel. The "for-review" tag has been replaced with the "watchlist" tag to highlight that further cases with seizures are needed for this gene to be rated Green on this panel.
Fetal anomalies v1.536 SNX10 Arina Puzriakova Classified gene: SNX10 as Amber List (moderate evidence)
Fetal anomalies v1.536 SNX10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.536 SNX10 Arina Puzriakova Gene: snx10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.535 SNX10 Arina Puzriakova Tag for-review tag was added to gene: SNX10.
Fetal anomalies v1.535 RPS24 Arina Puzriakova Phenotypes for gene: RPS24 were changed from Diamond-blackfan anemia 3 610629 to Diamond-blackfan anemia 3, OMIM:610629; Diamond-Blackfan anemia 3, MONDO:0012529
Fetal anomalies v1.534 RPL35A Arina Puzriakova Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5 612528 to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925
Fetal anomalies v1.533 RPS24 Arina Puzriakova Classified gene: RPS24 as Amber List (moderate evidence)
Fetal anomalies v1.533 RPS24 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.533 RPS24 Arina Puzriakova Gene: rps24 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.532 RPS24 Arina Puzriakova Tag for-review tag was added to gene: RPS24.
Fetal anomalies v1.532 RPL35A Arina Puzriakova Classified gene: RPL35A as Amber List (moderate evidence)
Fetal anomalies v1.532 RPL35A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.532 RPL35A Arina Puzriakova Gene: rpl35a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.531 RPL35A Arina Puzriakova Tag for-review tag was added to gene: RPL35A.
Fetal anomalies v1.531 SDR9C7 Ivone Leong Tag for-review tag was added to gene: SDR9C7.
Fetal anomalies v1.531 SDR9C7 Ivone Leong Classified gene: SDR9C7 as Amber List (moderate evidence)
Fetal anomalies v1.531 SDR9C7 Ivone Leong Added comment: Comment on list classification: New gene added by Rhiannon Mellis (Great Ormond Street Hospital).

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.531 SDR9C7 Ivone Leong Gene: sdr9c7 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.751 TET3 Sarah Leigh Phenotypes for gene: TET3 were changed from Beck-Fahrner syndrome 618798 to Beck-Fahrner syndrome OMIM:618798
Intellectual disability v3.751 TET3 Sarah Leigh Publications for gene: TET3 were set to https://doi.org/10.1016/j.ajhg.2019.12.007; 31928709
Fetal anomalies v1.530 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Fetal anomalies v1.529 SCLT1 Ivone Leong Classified gene: SCLT1 as Amber List (moderate evidence)
Fetal anomalies v1.529 SCLT1 Ivone Leong Added comment: Comment on list classification: New gene added by Rhiannon Mellis (Great Ormond Street Hospital).

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.529 SCLT1 Ivone Leong Gene: sclt1 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.287 TET3 Sarah Leigh Publications for gene: TET3 were set to https://doi.org/10.1016/j.ajhg.2019.12.007; 31928709
Fetal anomalies v1.528 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to
Fetal anomalies v1.527 RFT1 Arina Puzriakova Phenotypes for gene: RFT1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N to Congenital disorder of glycosylation, type In, OMIM:612015; RFT1-CDG, MONDO:0012783
Fetal anomalies v1.526 RFT1 Arina Puzriakova Classified gene: RFT1 as Amber List (moderate evidence)
Fetal anomalies v1.526 RFT1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.526 RFT1 Arina Puzriakova Gene: rft1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.525 RSPH9 Ivone Leong Tag for-review tag was added to gene: RSPH9.
Fetal anomalies v1.525 RFT1 Arina Puzriakova Tag for-reivew tag was added to gene: RFT1.
Fetal anomalies v1.525 RSPH9 Ivone Leong Classified gene: RSPH9 as Amber List (moderate evidence)
Fetal anomalies v1.525 RSPH9 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.525 RSPH9 Ivone Leong Gene: rsph9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.524 RBM10 Arina Puzriakova Phenotypes for gene: RBM10 were changed from TARP SYNDR