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28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Deleted their comment
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Deleted their comment
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence)
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are at least three unrelated families reported with biallelic CASP2 variants and intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS review.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence).
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence)
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are at least three unrelated families reported with biallelic CASP2 variants and intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS review.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence).
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence)
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are at least three unrelated families reported with biallelic CASP2 variants and intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS review.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence).
28 Nov 2023	Intellectual disability - microarray and sequencing v5.340	CASP2	Achchuthan Shanmugasundram Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
28 Nov 2023	Intellectual disability - microarray and sequencing v5.340	CASP2	Achchuthan Shanmugasundram Phenotypes for gene: CASP2 were changed from Autosomal recessive mental retardation to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
28 Nov 2023	Intellectual disability - microarray and sequencing v5.339	CASP2	Achchuthan Shanmugasundram Publications for gene: CASP2 were set to 26350204; 24896178; 21937992
28 Nov 2023	Intellectual disability - microarray and sequencing v5.338	CASP2	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CASP2.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.338	CASP2	Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37880421; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Nov 2023	Intellectual disability - microarray and sequencing v5.338	ZBTB47	Sarah Leigh commented on gene: ZBTB47: The opinion of Helen Brittain (Genomics England, Clinical Fellow), was that ZBTB47 should be green on the Intellectual disability and Early onset or syndromic epilepsy panels.
23 Nov 2023	Intellectual disability - microarray and sequencing v5.338	ZBTB47	Sarah Leigh edited their review of gene: ZBTB47: Added comment: ZBTB47 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37743782 reports five unrelated patients with de novo missense variants in ZBTB47 (c.2039A>G, p.(Glu680Gly) in one patient and c.1429G>A, p.(Glu477Lys) in four others), with a phenotype that included developmental delay, intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities.; Changed rating: GREEN
23 Nov 2023	Intellectual disability - microarray and sequencing v5.338	ZBTB47	Sarah Leigh Phenotypes for gene: ZBTB47 were changed from Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related to Neurodevelopmental disorder, MONDO; 0700092
23 Nov 2023	Intellectual disability - microarray and sequencing v5.337	ZBTB47	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ZBTB47.
19 Nov 2023	Intellectual disability - microarray and sequencing v5.337	CASP2	Dmitrijs Rots reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37880421; Phenotypes: neurodevelopmental disorder with lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Nov 2023	Intellectual disability - microarray and sequencing v5.337	CLEC16A	Dmitrijs Rots gene: CLEC16A was added gene: CLEC16A was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CLEC16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLEC16A were set to PMID: 36538041 Phenotypes for gene: CLEC16A were set to severe neurodevelopmental disorder including microcephaly, brain atrophy, corpus callosum dysgenesis, and growth retardation Penetrance for gene: CLEC16A were set to Complete Review for gene: CLEC16A was set to GREEN Added comment: Two independent cases reported PMID: 36538041with biallelic variants and functional evidence. Sufficient for the green rating. Sources: Literature
10 Nov 2023	Intellectual disability - microarray and sequencing v5.337	VCP	Achchuthan Shanmugasundram Phenotypes for gene: VCP were changed from Neurodevelopmental disorder (MONDO: 0700092) to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram edited their review of gene: VCP: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: VCP.
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Classified gene: VCP as Amber List (moderate evidence)
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for adding this gene with green rating in the next GMS update.
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Gene: vcp has been classified as Amber List (Moderate Evidence).
10 Nov 2023	Intellectual disability - microarray and sequencing v5.335	VCP	Achchuthan Shanmugasundram reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37883978; Phenotypes: Intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Nov 2023	Intellectual disability - microarray and sequencing v5.335	DPP6	Ivone Leong commented on gene: DPP6
07 Nov 2023	Intellectual disability - microarray and sequencing v5.335	DPP6	Ivone Leong Tag Q4_23_demote_red tag was added to gene: DPP6. Tag Q4_23_NHS_review tag was added to gene: DPP6. Tag Q4_23_expert_review tag was added to gene: DPP6.
07 Nov 2023	Intellectual disability - microarray and sequencing v5.335	SEC23B	Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 to Dyserythropoietic anemia, congenital, type II, OMIM:224100
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Deleted their comment
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Classified gene: RAP1B as Amber List (moderate evidence)
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Gene: rap1b has been classified as Amber List (Moderate Evidence).
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Classified gene: RAP1B as Amber List (moderate evidence)
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Gene: rap1b has been classified as Amber List (Moderate Evidence).
06 Nov 2023	Intellectual disability - microarray and sequencing v5.333	RAP1B	Achchuthan Shanmugasundram Publications for gene: RAP1B were set to 32627184; 26280580
06 Nov 2023	Intellectual disability - microarray and sequencing v5.332	RAP1B	Achchuthan Shanmugasundram Tag watchlist was removed from gene: RAP1B. Tag Q4_23_promote_green tag was added to gene: RAP1B.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.332	RAP1B	Achchuthan Shanmugasundram changed review comment from: PMID:35451551 - New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. A novel, missense RAP1B variant (p.Ala59Gly) has been identified in this patient. This variant is on the neighbouring amino acid to one of the previously reported variants (p.Gly60Arg). This variant is confirmed de novo and not in gnomAD; to: PMID:35451551 - New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. A novel, missense RAP1B variant (p.Ala59Gly) has been identified in this patient. This variant is on the neighbouring amino acid to one of the previously reported variants (p.Gly60Arg). This variant is confirmed de novo and not in gnomAD. This gene has been associated with relevant phenotype in Gene2Phenotype database (with 'limited' rating in the DD panel), but not yet been associated with phenotypes in OMIM.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.332	RAP1B	Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35451551; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	DPP6	Gavin Ryan reviewed gene: DPP6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	SGSM3	Zornitza Stark gene: SGSM3 was added gene: SGSM3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSM3 were set to 37833060 Phenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related Review for gene: SGSM3 was set to AMBER Added comment: PMID: 37833060 - 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional features observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD. Sources: Literature
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	AGPAT3	Zornitza Stark gene: AGPAT3 was added gene: AGPAT3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT3 were set to 37821758 Phenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Review for gene: AGPAT3 was set to AMBER Added comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa - All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant - Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis - KO AGPAT3 mouse demonstrated impaired neuronal migration Sources: Literature
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	VCP	Zornitza Stark gene: VCP was added gene: VCP was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to 37883978 Phenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092) Review for gene: VCP was set to GREEN Added comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings. 12 de novo - 1 inherited Sources: Literature
02 Nov 2023	Intellectual disability - microarray and sequencing v5.332	ZBTB47	Sarah Leigh reviewed gene: ZBTB47: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Nov 2023	Intellectual disability - microarray and sequencing v5.332	ZBTB47	Sarah Leigh Classified gene: ZBTB47 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.332	ZBTB47	Sarah Leigh Gene: zbtb47 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.331	MYCN	Sarah Leigh Publications for gene: MYCN were set to 37710961; 21224895; 8470948; 16906565; 18671284; 15821734; 18470948
02 Nov 2023	Intellectual disability - microarray and sequencing v5.330	MYCN	Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain-of-function MYCN variants have been reported (PMID: 30573562; 37710961) where the phenotypic features are to an extent opposite the phenotype of Feingold syndrome 1 (OMIM:164280) caused by loss-of-function MYCN variants.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.330	MYCN	Sarah Leigh Mode of pathogenicity for gene: MYCN was changed from to None
02 Nov 2023	Intellectual disability - microarray and sequencing v5.329	MYCN	Sarah Leigh Publications for gene: MYCN were set to 21224895; 8470948; 16906565; 18671284; 15821734; 18470948
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MAST4.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh edited their review of gene: MAST4: Added comment: MAST4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO to date. PMID: 36910266 reports three de novo heterozygous MAST4 missense variants in four unrelated cases, with a neurodevelopmental disorder, including cognitive delay/intellectual disability and PMID: 33057194 reports four heterozygous MAST4 missense variants in four unrelated cases and a terminating variant in an additional case, from a cohort of 31,058 parent-offspring trios of individuals with developmental disorders. Between these two publications there are five missense MAST4 variants and one terminating variant. Variant c.4412C>T (p.Thr1471Ile) was seen in three unrelated cases.; Changed rating: GREEN
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Classified gene: MAST4 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Gene: mast4 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.327	MAST4	Sarah Leigh Classified gene: MAST4 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.327	MAST4	Sarah Leigh Gene: mast4 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: RBL2. Tag Q4_23_NHS_review tag was added to gene: RBL2.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Classified gene: RBL2 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Gene: rbl2 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.325	RBL2	Sarah Leigh edited their review of gene: RBL2: Added comment: RBL2 variants have been associated with Brunet-Wagner neurodevelopmental syndrome (OMIM:619690) but not with phenotype in Gen2Phen. To date six RBL2 variants have been reported in four unrelated cases of OMIM:619690 (PMIDs: 32105419; 33980986).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Nov 2023	Intellectual disability - microarray and sequencing v5.325	RBL2	Sarah Leigh Phenotypes for gene: RBL2 were changed from intellectual diability to Brunet-Wagner neurodevelopmental syndrome, OMIM:619690
02 Nov 2023	Intellectual disability - microarray and sequencing v5.324	RBL2	Sarah Leigh Publications for gene: RBL2 were set to 32105419; 9806916
02 Nov 2023	Intellectual disability - microarray and sequencing v5.323	FAM111A	Sarah Leigh Tag Q4_23_demote_red tag was added to gene: FAM111A. Tag Q4_23_NHS_review tag was added to gene: FAM111A.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.323	FAM111A	Sarah Leigh Publications for gene: FAM111A were set to 23684011; 23996431; 25529582; 37023242; 34382758
02 Nov 2023	Intellectual disability - microarray and sequencing v5.322	FAM111A	Sarah Leigh changed review comment from: Intellectual disability is not a feature of Gracile bone dysplasia (OMIM: 602361) or Kenny-Caffey syndrome, type 2 (OMIM: 127000)(PMID: 23684011;23996431;25529582).; to: Intellectual disability is not a feature of Gracile bone dysplasia (OMIM: 602361) or Kenny-Caffey syndrome, type 2 (OMIM: 127000)(PMID: 23684011;23996431;25529582). PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense variant c.976T>A (p.L326I) and maternal heterozygous in-frame deletion variant c.1714_1716del (p.Ile572del, rs779963813)).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.322	FAM111A	Sarah Leigh Publications for gene: FAM111A were set to 23684011; 25529582; 37023242
02 Nov 2023	Intellectual disability - microarray and sequencing v5.321	FAM111A	Sarah Leigh reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Nov 2023	Intellectual disability - microarray and sequencing v5.321	FAM111A	Sarah Leigh Publications for gene: FAM111A were set to 23684011
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Tag watchlist was removed from gene: ARF3.
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Classified gene: ARF3 as Amber List (moderate evidence)
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Gene: arf3 has been classified as Amber List (Moderate Evidence).
28 Oct 2023	Intellectual disability - microarray and sequencing v5.319	ARF3	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ARF3.
28 Oct 2023	Intellectual disability - microarray and sequencing v5.319	ARF3	Achchuthan Shanmugasundram Publications for gene: ARF3 were set to 34346499; 36369169
28 Oct 2023	Intellectual disability - microarray and sequencing v5.319	ARF3	Achchuthan Shanmugasundram Publications for gene: ARF3 were set to 34346499
28 Oct 2023	Intellectual disability - microarray and sequencing v5.318	ARF3	Achchuthan Shanmugasundram reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36369169; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Oct 2023	Intellectual disability - microarray and sequencing v5.318	RBL2	Mike Spiller reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32105419, PMID: 33980986; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Oct 2023	Intellectual disability - microarray and sequencing v5.317	KCNH5	Arina Puzriakova Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to Developmental and epileptic encephalopathy 112, OMIM:620537
24 Oct 2023	Intellectual disability - microarray and sequencing v5.315	DOCK8	Dmitrijs Rots reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MYCN	Zornitza Stark edited their review of gene: MYCN: Added comment: PMID 37710961: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals) and somewhat opposing phenotype cf Feingold. Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.; Changed publications to: 21224895, 8470948, 37710961; Changed phenotypes to: Feingold syndrome 1, Megalencephaly, intellectual disability, Neurodevelopmental disorder (MONDO:0700092), MYCN-related
21 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MAST4	Zornitza Stark gene: MAST4 was added gene: MAST4 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST4 were set to 36910266; 33057194 Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related Review for gene: MAST4 was set to GREEN Added comment: 9 individuals with de novo missense variants and ID reported altogether. PMID: 36910266 - 4 affecteds from unrelated families, all de novo missense 2x borderline microcephaly (-2SD) 2x gross motor delay 2x dysmorphism 4x ID + seizures 3x abnormal brain MRI findings PMID: 33057194 - 5x de novos, 4x missense + 1x PTC Cohort of individuals with severe developmental disorder individual phenotypic information not provided Recurrent variants are Thr1471Ile (3x) and Ser1181Phe) Sources: Literature
21 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ZBTB47	Zornitza Stark gene: ZBTB47 was added gene: ZBTB47 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB47 were set to 37743782 Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Review for gene: ZBTB47 was set to GREEN Added comment: PMID 37743782: - 5 individuals with de novo missense variants, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5). - Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers. - No functional studies performed Sources: Literature
18 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MT-ND4	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
18 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MT-ND1	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
18 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ERI1	Achchuthan Shanmugasundram Classified gene: ERI1 as Amber List (moderate evidence)
17 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ERI1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases with biallelic null ERI1 variants and mild intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ERI1	Achchuthan Shanmugasundram Gene: eri1 has been classified as Amber List (Moderate Evidence).
17 Oct 2023	Intellectual disability - microarray and sequencing v5.314	ERI1	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ERI1.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.314	ERI1	Achchuthan Shanmugasundram gene: ERI1 was added gene: ERI1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 36208065; 37352860 Phenotypes for gene: ERI1 were set to intellectual disability, MONDO:0001071 Review for gene: ERI1 was set to GREEN Added comment: PMID:36208065 reported a female patient with a homozygous nonsense variant in ERI1 gene and with mild intellectual disability (ID), eyelid ptosis, and anomalies in her hands and feet (brachydactyly, clinodactyly, dysplastic/short nail of halluces, brachytelephalangy, short metacarpals, and toe syndactyly). PMID:37352860 reported eight patients from seven unrelated families with compound heterozygous variants in ERI1 gene, of which four patients had missense variants, three had null variants and one had missense and PTC variants. The patients with missense variants had a more severe severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly. The patients with null variants had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly. The patient with both missense and PTC variants had phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, and delayed motor milestones and speech and generalised hypotonia. This gene has not yet been reported with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	TUBGCP2	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TUBGCP2.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	MMGT1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MMGT1.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	MMGT1	Achchuthan Shanmugasundram commented on gene: MMGT1
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	HECTD4	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	HECTD4	Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC82	Achchuthan Shanmugasundram commented on gene: CCDC82: The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC82	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC82.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC32	Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	ZMYND8	Eleanor Williams commented on gene: ZMYND8
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	ZMYND8	Eleanor Williams Tag gene-checked tag was added to gene: ZMYND8.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	TRA2B	Eleanor Williams Tag gene-checked tag was added to gene: TRA2B.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	TRA2B	Eleanor Williams commented on gene: TRA2B
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SLC32A1	Eleanor Williams commented on gene: SLC32A1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SLC32A1	Eleanor Williams Tag gene-checked tag was added to gene: SLC32A1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SHANK1	Eleanor Williams Tag gene-checked tag was added to gene: SHANK1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SHANK1	Eleanor Williams commented on gene: SHANK1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	RBSN	Eleanor Williams commented on gene: RBSN
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	RBSN	Eleanor Williams Tag gene-checked tag was added to gene: RBSN.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	POU3F2	Eleanor Williams Tag gene-checked tag was added to gene: POU3F2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	POU3F2	Eleanor Williams commented on gene: POU3F2
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PLK1	Eleanor Williams Tag gene-checked tag was added to gene: PLK1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PLK1	Eleanor Williams commented on gene: PLK1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PAN2	Eleanor Williams commented on gene: PAN2
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PAN2	Eleanor Williams Tag gene-checked tag was added to gene: PAN2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	OTUD7A	Eleanor Williams commented on gene: OTUD7A
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	OTUD7A	Eleanor Williams Tag gene-checked tag was added to gene: OTUD7A.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	LHX2	Eleanor Williams Tag gene-checked tag was added to gene: LHX2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	LHX2	Eleanor Williams commented on gene: LHX2
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KLHL20	Eleanor Williams commented on gene: KLHL20
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KLHL20	Eleanor Williams Tag gene-checked tag was added to gene: KLHL20.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM5A	Eleanor Williams Tag gene-checked tag was added to gene: KDM5A.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM5A	Eleanor Williams commented on gene: KDM5A
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM2B	Eleanor Williams Tag gene-checked tag was added to gene: KDM2B.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM2B	Eleanor Williams commented on gene: KDM2B
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC32	Achchuthan Shanmugasundram commented on gene: CCDC32
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	C2orf69	Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	C2orf69	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	C2orf69	Achchuthan Shanmugasundram commented on gene: C2orf69
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SPATA5	Achchuthan Shanmugasundram commented on gene: SPATA5
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SPATA5L1	Achchuthan Shanmugasundram commented on gene: SPATA5L1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	FILIP1	Eleanor Williams Tag gene-checked tag was added to gene: FILIP1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	FILIP1	Eleanor Williams commented on gene: FILIP1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SRRM2	Arina Puzriakova Phenotypes for gene: SRRM2 were changed from SRRM2-related developmental disorder (monoallelic) to Intellectual developmental disorder, autosomal dominant 72, OMIM:620439
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	DDX23	Eleanor Williams Tag gene-checked tag was added to gene: DDX23.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	SRRM2	Arina Puzriakova Tag gene-checked was removed from gene: SRRM2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	DDX23	Eleanor Williams commented on gene: DDX23
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	SCAF4	Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	SCAF4	Arina Puzriakova Tag gene-checked was removed from gene: SCAF4.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	CTR9	Eleanor Williams Tag gene-checked tag was added to gene: CTR9.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	CTR9	Eleanor Williams commented on gene: CTR9
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	ROBO1	Arina Puzriakova Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071; Neurooculorenal syndrome, OMIM:620305
16 Oct 2023	Intellectual disability - microarray and sequencing v5.310	RFX7	Arina Puzriakova Phenotypes for gene: RFX7 were changed from Intellectual disability, MONDO:0001071; Autism spectrum disorder, MONDO:0005258; Attention deficit-hyperactivity disorder, MONDO:0007743 to Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	RFX7	Arina Puzriakova Tag gene-checked was removed from gene: RFX7.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	CLDN5	Eleanor Williams commented on gene: CLDN5
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	CLDN5	Eleanor Williams Tag gene-checked tag was added to gene: CLDN5.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	AGO1	Arina Puzriakova Tag gene-checked was removed from gene: AGO1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	AGO1	Arina Puzriakova Phenotypes for gene: AGO1 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Autism to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
16 Oct 2023	Intellectual disability - microarray and sequencing v5.308	CAPRIN1	Eleanor Williams Tag gene-checked tag was added to gene: CAPRIN1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.308	CAPRIN1	Eleanor Williams commented on gene: CAPRIN1
14 Oct 2023	Intellectual disability - microarray and sequencing v5.308	SRSF1	Achchuthan Shanmugasundram Classified gene: SRSF1 as Amber List (moderate evidence)
14 Oct 2023	Intellectual disability - microarray and sequencing v5.308	SRSF1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (15 unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS review.
14 Oct 2023	Intellectual disability - microarray and sequencing v5.308	SRSF1	Achchuthan Shanmugasundram Gene: srsf1 has been classified as Amber List (Moderate Evidence).
14 Oct 2023	Intellectual disability - microarray and sequencing v5.307	SRSF1	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SRSF1.
14 Oct 2023	Intellectual disability - microarray and sequencing v5.307	SRSF1	Achchuthan Shanmugasundram gene: SRSF1 was added gene: SRSF1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRSF1 were set to 37071997 Phenotypes for gene: SRSF1 were set to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489 Review for gene: SRSF1 was set to GREEN Added comment: There are 17 individuals from 16 different families were reported with 15 different monoallelic variants (mostly de novo) in SRSF1 gene. They were reported with a neurodevelopmental disorder mainly comprising neurological abnormalities such as intellectual disability/ developmental delay, motor delay, speech delay, and behavioural disorders and facial dysmorphisms. Intellectual disability was present in 16 of 17 individuals (3 severe, 2 moderate, 3 mild to moderate, 3 mild, 1 borderline and 4 unknown severity), while the remaining one had learning disability. Functional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS. This gene has already been associated with neurodevelopmental disorder in both OMIM (MIM #620489) and Gene2Phenotype ('limited' rating in the DD panel). Sources: Literature
11 Oct 2023	Intellectual disability - microarray and sequencing v5.306	GCSH	Arina Puzriakova Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423; Glycine encephalopathy; Transient neonatal hyperglycinemia
11 Oct 2023	Intellectual disability - microarray and sequencing v5.305	ZNF292	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ZNF292. Tag Q1_23_NHS_review was removed from gene: ZNF292.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.305	ZMYND8	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ZMYND8.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.305	ZMYM3	Arina Puzriakova Phenotypes for gene: ZMYM3 were changed from X-linked mental retardation to Intellectual developmental disorder, X-linked 112, OMIM:301111
11 Oct 2023	Intellectual disability - microarray and sequencing v5.304	ZMYM3	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ZMYM3.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.304	WIPI2	Arina Puzriakova Phenotypes for gene: WIPI2 were changed from ?Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453
11 Oct 2023	Intellectual disability - microarray and sequencing v5.303	WIPI2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: WIPI2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.303	UBAP2L	Arina Puzriakova Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	UBAP2L	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: UBAP2L.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TRA2B	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TRA2B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TMEM147	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TMEM147.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TCEAL1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TCEAL1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TAF4	Arina Puzriakova Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to Intellectual developmental disorder, autosomal dominant 73, OMIM:620450
11 Oct 2023	Intellectual disability - microarray and sequencing v5.301	TAF4	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TAF4.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.301	TAF2	Arina Puzriakova Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, 615599 to Mental retardation, autosomal recessive 40, OMIM:615599
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	TAF2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TAF2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SUFU	Arina Puzriakova Tag watchlist_moi was removed from gene: SUFU. Tag Q4_22_MOI was removed from gene: SUFU. Tag Q4_22_promote_green was removed from gene: SUFU. Tag Q4_22_expert_review was removed from gene: SUFU.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	STXBP1	Arina Puzriakova Tag Q1_23_MOI was removed from gene: STXBP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SLC32A1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SLC32A1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SHANK1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SHANK1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SEMA6B	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SEMA6B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SARS	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SARS.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	ROR2	Arina Puzriakova Tag Q4_22_demote_red was removed from gene: ROR2. Tag Q4_22_NHS_review was removed from gene: ROR2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	ROBO1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ROBO1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	RBSN	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: RBSN.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	PRKAR1B	Arina Puzriakova Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PRKAR1B	Arina Puzriakova Tag watchlist was removed from gene: PRKAR1B. Tag Q2_23_promote_green was removed from gene: PRKAR1B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PPFIBP1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	POU3F2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: POU3F2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PLXNA1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLXNA1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PLK1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLK1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PAX6	Arina Puzriakova Tag Q1_23_demote_red was removed from gene: PAX6. Tag Q1_23_NHS_review was removed from gene: PAX6.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PAN2	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: PAN2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	OTUD7A	Arina Puzriakova Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
11 Oct 2023	Intellectual disability - microarray and sequencing v5.298	OTUD7A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: OTUD7A.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.298	NUP214	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: NUP214.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.298	MTSS1L	Arina Puzriakova Phenotypes for gene: MTSS1L were changed from Global developmental delay; Intellectual disability; Ophthalmological anomalies; Microcephaly; Mild facial dysmorphisms to Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086
11 Oct 2023	Intellectual disability - microarray and sequencing v5.297	MTSS1L	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: MTSS1L.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.297	MED11	Arina Puzriakova Phenotypes for gene: MED11 were changed from MED11-associated neurodevelopmental disorder to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
11 Oct 2023	Intellectual disability - microarray and sequencing v5.296	MED11	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MED11.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.296	MAN2C1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MAN2C1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.296	LHX2	Arina Puzriakova Phenotypes for gene: LHX2 were changed from neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	LHX2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: LHX2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	KLHL20	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KLHL20.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	KIF4A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KIF4A.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	KDM5A	Arina Puzriakova Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	KDM5A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KDM5A. Tag Q2_23_NHS_review was removed from gene: KDM5A.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	KDM2B	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KDM2B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	KCNK3	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KCNK3.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	ITPR1	Arina Puzriakova Tag Q2_23_MOI was removed from gene: ITPR1. Tag Q2_23_NHS_review was removed from gene: ITPR1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	IQSEC2	Arina Puzriakova Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530; non-syndromic X-linked intellectual disability; Rett like phenotype in males; MENTAL RETARDATION X-LINKED TYPE 1 (MRX1) to Intellectual developmental disorder, X-linked 1, OMIM:309530
11 Oct 2023	Intellectual disability - microarray and sequencing v5.293	IQSEC2	Arina Puzriakova Tag Q2_23_MOI was removed from gene: IQSEC2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.293	INTS11	Arina Puzriakova Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	INTS11	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: INTS11.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	HUWE1	Arina Puzriakova Tag Q2_23_MOI was removed from gene: HUWE1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	HIST1H4E	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: HIST1H4E.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	HECTD4	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: HECTD4.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GRM7	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: GRM7.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GRIA1	Arina Puzriakova Tag watchlist_moi tag was added to gene: GRIA1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GRIA1	Arina Puzriakova Tag Autism Spectrum Disorder was removed from gene: GRIA1. Tag Q2_23_promote_green was removed from gene: GRIA1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GCSH	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GCSH.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	FRMD5	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: FRMD5.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	FLNA	Arina Puzriakova Tag Q2_23_demote_red was removed from gene: FLNA.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	FILIP1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: FILIP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	ENTPD1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ENTPD1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	DPH5	Arina Puzriakova Phenotypes for gene: DPH5 were changed from DPH5-related neurodevelopmental disorder to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
11 Oct 2023	Intellectual disability - microarray and sequencing v5.291	DPH5	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: DPH5.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.291	DDX23	Arina Puzriakova Phenotypes for gene: DDX23 were changed from Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
11 Oct 2023	Intellectual disability - microarray and sequencing v5.290	DOHH	Arina Puzriakova Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
11 Oct 2023	Intellectual disability - microarray and sequencing v5.289	DDX23	Arina Puzriakova Phenotypes for gene: DDX23 were changed from Global developmental delay with speech and behavioral abnormalities, MONDO:0030995 to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
11 Oct 2023	Intellectual disability - microarray and sequencing v5.288	DOHH	Arina Puzriakova Tag Q4_22_MOI was removed from gene: DOHH. Tag Q4_22_promote_green was removed from gene: DOHH.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.288	DDX23	Arina Puzriakova Phenotypes for gene: DDX23 were changed from Developmental disorder to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	DDX23	Arina Puzriakova Tag watchlist was removed from gene: DDX23. Tag Q2_23_promote_green was removed from gene: DDX23.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CTR9	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CTR9.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CPLX1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CPLX1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CLDN5	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CLDN5.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CCDC82	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CCDC82.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CAPRIN1	Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures to Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CAPRIN1	Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CAPRIN1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CAPRIN1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	C2orf69	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: C2orf69.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BUB1	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: BUB1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BAP1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: BAP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZNF292	Arina Puzriakova reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYND8	Arina Puzriakova reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYM3	Arina Puzriakova reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	WIPI2	Arina Puzriakova reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	UBAP2L	Arina Puzriakova reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TRA2B	Arina Puzriakova reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TMEM147	Arina Puzriakova reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TCEAL1	Arina Puzriakova reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF4	Arina Puzriakova reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF2	Arina Puzriakova reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SUFU	Arina Puzriakova commented on gene: SUFU: After NHS Genomic Medicine Service consideration, the rating of this gene has been updated to Green but the mode of inheritance has been set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. Additional comments from reviewing GLHs: 'Consensus view: Monoallelic and biallelic'.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	STXBP1	Arina Puzriakova reviewed gene: STXBP1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SLC32A1	Arina Puzriakova reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SHANK1	Arina Puzriakova reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SEMA6B	Arina Puzriakova reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SARS	Arina Puzriakova commented on gene: SARS: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROR2	Arina Puzriakova edited their review of gene: ROR2: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROBO1	Arina Puzriakova reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	RBSN	Arina Puzriakova reviewed gene: RBSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PRKAR1B	Arina Puzriakova reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PPFIBP1	Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	POU3F2	Arina Puzriakova reviewed gene: POU3F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLXNA1	Arina Puzriakova reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLK1	Arina Puzriakova reviewed gene: PLK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAX6	Arina Puzriakova reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAN2	Arina Puzriakova reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	OTUD7A	Arina Puzriakova reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	NUP214	Arina Puzriakova reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MTSS1L	Arina Puzriakova commented on gene: MTSS1L: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MED11	Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MAN2C1	Arina Puzriakova reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	LHX2	Arina Puzriakova reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KLHL20	Arina Puzriakova edited their review of gene: KLHL20: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KIF4A	Arina Puzriakova reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM5A	Arina Puzriakova reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM2B	Arina Puzriakova reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KCNK3	Arina Puzriakova edited their review of gene: KCNK3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ITPR1	Arina Puzriakova edited their review of gene: ITPR1: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	IQSEC2	Arina Puzriakova reviewed gene: IQSEC2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	INTS11	Arina Puzriakova edited their review of gene: INTS11: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HUWE1	Arina Puzriakova reviewed gene: HUWE1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HIST1H4E	Arina Puzriakova reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HECTD4	Arina Puzriakova reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRM7	Arina Puzriakova reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRIA1	Arina Puzriakova edited their review of gene: GRIA1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GCSH	Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FRMD5	Arina Puzriakova commented on gene: FRMD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FLNA	Arina Puzriakova reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FILIP1	Arina Puzriakova reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ENTPD1	Arina Puzriakova edited their review of gene: ENTPD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DPH5	Arina Puzriakova reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DOHH	Arina Puzriakova reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DDX23	Arina Puzriakova reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CTR9	Arina Puzriakova reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CPLX1	Arina Puzriakova reviewed gene: CPLX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CLDN5	Arina Puzriakova reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CCDC82	Arina Puzriakova reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CAPRIN1	Arina Puzriakova reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	C2orf69	Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BUB1	Arina Puzriakova edited their review of gene: BUB1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BAP1	Arina Puzriakova reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZNF292	Arina Puzriakova Source NHS GMS was added to ZNF292. Source Expert Review Green was added to ZNF292. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYND8	Arina Puzriakova Source NHS GMS was added to ZMYND8. Source Expert Review Green was added to ZMYND8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYM3	Arina Puzriakova Source NHS GMS was added to ZMYM3. Source Expert Review Green was added to ZMYM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	WIPI2	Arina Puzriakova Source NHS GMS was added to WIPI2. Source Expert Review Green was added to WIPI2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	UBAP2L	Arina Puzriakova Source NHS GMS was added to UBAP2L. Source Expert Review Green was added to UBAP2L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TRA2B	Arina Puzriakova Source NHS GMS was added to TRA2B. Source Expert Review Green was added to TRA2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TMEM147	Arina Puzriakova Source NHS GMS was added to TMEM147. Source Expert Review Green was added to TMEM147. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TCEAL1	Arina Puzriakova Source NHS GMS was added to TCEAL1. Source Expert Review Green was added to TCEAL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF4	Arina Puzriakova Source NHS GMS was added to TAF4. Source Expert Review Green was added to TAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF2	Arina Puzriakova Source NHS GMS was added to TAF2. Source Expert Review Green was added to TAF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SUFU	Arina Puzriakova Source NHS GMS was added to SUFU. Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	STXBP1	Arina Puzriakova Source NHS GMS was added to STXBP1. Mode of inheritance for gene STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SLC32A1	Arina Puzriakova Source NHS GMS was added to SLC32A1. Source Expert Review Green was added to SLC32A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SHANK1	Arina Puzriakova Source NHS GMS was added to SHANK1. Source Expert Review Green was added to SHANK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SEMA6B	Arina Puzriakova Source NHS GMS was added to SEMA6B. Source Expert Review Green was added to SEMA6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SARS	Arina Puzriakova Source NHS GMS was added to SARS. Source Expert Review Green was added to SARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROR2	Arina Puzriakova Source Expert Review Red was added to ROR2. Source NHS GMS was added to ROR2. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROBO1	Arina Puzriakova Source NHS GMS was added to ROBO1. Source Expert Review Green was added to ROBO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	RBSN	Arina Puzriakova Source NHS GMS was added to RBSN. Source Expert Review Green was added to RBSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PRKAR1B	Arina Puzriakova Source NHS GMS was added to PRKAR1B. Source Expert Review Green was added to PRKAR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PPFIBP1	Arina Puzriakova Source NHS GMS was added to PPFIBP1. Source Expert Review Green was added to PPFIBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	POU3F2	Arina Puzriakova Source NHS GMS was added to POU3F2. Source Expert Review Green was added to POU3F2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLXNA1	Arina Puzriakova Source NHS GMS was added to PLXNA1. Source Expert Review Green was added to PLXNA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLK1	Arina Puzriakova Source NHS GMS was added to PLK1. Source Expert Review Green was added to PLK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAX6	Arina Puzriakova Source Expert Review Red was added to PAX6. Source NHS GMS was added to PAX6. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAN2	Arina Puzriakova Source NHS GMS was added to PAN2. Source Expert Review Green was added to PAN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	OTUD7A	Arina Puzriakova Source NHS GMS was added to OTUD7A. Source Expert Review Green was added to OTUD7A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	NUP214	Arina Puzriakova Source NHS GMS was added to NUP214. Source Expert Review Green was added to NUP214. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MTSS1L	Arina Puzriakova Source NHS GMS was added to MTSS1L. Source Expert Review Green was added to MTSS1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MED11	Arina Puzriakova Source NHS GMS was added to MED11. Source Expert Review Green was added to MED11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MAN2C1	Arina Puzriakova Source NHS GMS was added to MAN2C1. Source Expert Review Green was added to MAN2C1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	LHX2	Arina Puzriakova Source NHS GMS was added to LHX2. Source Expert Review Green was added to LHX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KLHL20	Arina Puzriakova Source NHS GMS was added to KLHL20. Source Expert Review Green was added to KLHL20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KIF4A	Arina Puzriakova Source NHS GMS was added to KIF4A. Source Expert Review Green was added to KIF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM5A	Arina Puzriakova Source NHS GMS was added to KDM5A. Source Expert Review Green was added to KDM5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM2B	Arina Puzriakova Source NHS GMS was added to KDM2B. Source Expert Review Green was added to KDM2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KCNK3	Arina Puzriakova Source NHS GMS was added to KCNK3. Source Expert Review Green was added to KCNK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ITPR1	Arina Puzriakova Source NHS GMS was added to ITPR1. Mode of inheritance for gene ITPR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	IQSEC2	Arina Puzriakova Source NHS GMS was added to IQSEC2. Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	INTS11	Arina Puzriakova Source NHS GMS was added to INTS11. Source Expert Review Green was added to INTS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HUWE1	Arina Puzriakova Source NHS GMS was added to HUWE1. Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HIST1H4E	Arina Puzriakova Source NHS GMS was added to HIST1H4E. Source Expert Review Green was added to HIST1H4E. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HECTD4	Arina Puzriakova Source NHS GMS was added to HECTD4. Source Expert Review Green was added to HECTD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRM7	Arina Puzriakova Source NHS GMS was added to GRM7. Source Expert Review Green was added to GRM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRIA1	Arina Puzriakova Source NHS GMS was added to GRIA1. Source Expert Review Green was added to GRIA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GCSH	Arina Puzriakova Source NHS GMS was added to GCSH. Source Expert Review Green was added to GCSH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FRMD5	Arina Puzriakova Source NHS GMS was added to FRMD5. Source Expert Review Green was added to FRMD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FLNA	Arina Puzriakova Source Expert Review Red was added to FLNA. Source NHS GMS was added to FLNA. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FILIP1	Arina Puzriakova Source NHS GMS was added to FILIP1. Source Expert Review Green was added to FILIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ENTPD1	Arina Puzriakova Source NHS GMS was added to ENTPD1. Source Expert Review Green was added to ENTPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DPH5	Arina Puzriakova Source NHS GMS was added to DPH5. Source Expert Review Green was added to DPH5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DOHH	Arina Puzriakova Source NHS GMS was added to DOHH. Source Expert Review Green was added to DOHH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DDX23	Arina Puzriakova Source NHS GMS was added to DDX23. Source Expert Review Green was added to DDX23. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CTR9	Arina Puzriakova Source NHS GMS was added to CTR9. Source Expert Review Green was added to CTR9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CPLX1	Arina Puzriakova Source NHS GMS was added to CPLX1. Source Expert Review Green was added to CPLX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CLDN5	Arina Puzriakova Source NHS GMS was added to CLDN5. Source Expert Review Green was added to CLDN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CCDC82	Arina Puzriakova Source NHS GMS was added to CCDC82. Source Expert Review Green was added to CCDC82. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CAPRIN1	Arina Puzriakova Source NHS GMS was added to CAPRIN1. Source Expert Review Green was added to CAPRIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	C2orf69	Arina Puzriakova Source NHS GMS was added to C2orf69. Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BUB1	Arina Puzriakova Source NHS GMS was added to BUB1. Source Expert Review Green was added to BUB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BAP1	Arina Puzriakova Source NHS GMS was added to BAP1. Source Expert Review Green was added to BAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
05 Oct 2023	Intellectual disability - microarray and sequencing v5.285	HECTD4	Achchuthan Shanmugasundram Deleted their comment
05 Oct 2023	Intellectual disability - microarray and sequencing v5.285	HECTD4	Achchuthan Shanmugasundram Deleted their comment
02 Oct 2023	Intellectual disability - microarray and sequencing v5.285	SPATA5L1	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
02 Oct 2023	Intellectual disability - microarray and sequencing v5.285	SPATA5	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.; to: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (12 unrelated cases) for this gene to be promoted to green rating at the next GMS update.
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram Classified gene: RAB5C as Amber List (moderate evidence)
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram Gene: rab5c has been classified as Amber List (Moderate Evidence).
14 Sep 2023	Intellectual disability - microarray and sequencing v5.284	RAB5C	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: RAB5C.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram changed review comment from: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses. This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.; to: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine live-born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses. This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram Classified gene: ESAM as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram Gene: esam has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.283	ESAM	Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from severe ID; seizures, spasticity to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
13 Sep 2023	Intellectual disability - microarray and sequencing v5.282	ESAM	Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	ESAM	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ESAM. Tag Q3_23_NHS_review tag was added to gene: ESAM.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	ESAM	Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPP1R3F.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	PPP1R3F	Achchuthan Shanmugasundram reviewed gene: PPP1R3F: Rating: GREEN; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: NR2F2. Tag Q3_23_NHS_review tag was added to gene: NR2F2.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Classified gene: NR2F2 as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Classified gene: NR2F2 as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram changed review comment from: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.; to: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. Some patients with CHD (MIM #615779) are reported with developmental delays in the OMIM record. PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram changed review comment from: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.; to: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to 29663647; 37500725
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to 29663647; 37500725
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.274	NR2F2	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.274	NR2F2	Achchuthan Shanmugasundram commented on gene: NR2F2: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.274	NR2F2	Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663647, 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: U2AF2. Tag Q3_23_NHS_review tag was added to gene: U2AF2.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.273	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.273	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.273	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 33057194
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed publications to: 28135719, 31785789, 33057194, 34112922, 36747105, 37092751, 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Deleted their comment
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Deleted their comment
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	U2AF2	Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 31785789, 34112922, 36747105, 37092751, 37134193; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	MT-ND4	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	MT-ND1	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
07 Sep 2023	Intellectual disability - microarray and sequencing v5.271	PPP1R3F	Zornitza Stark gene: PPP1R3F was added gene: PPP1R3F was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PPP1R3F were set to 37531237 Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Review for gene: PPP1R3F was set to GREEN Added comment: 13 unrelated hemizygous individuals reported with functional evidence Sources: Literature
07 Sep 2023	Intellectual disability - microarray and sequencing v5.271	RAB5C	Zornitza Stark gene: RAB5C was added gene: RAB5C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB5C were set to 37552066 Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related Review for gene: RAB5C was set to GREEN Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C. 9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe). All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). Sources: Literature
05 Sep 2023	Intellectual disability - microarray and sequencing v5.271	NR2F2	Katherine Lachlan reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37500725; Phenotypes: intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, vascular malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Sep 2023	Intellectual disability - microarray and sequencing v5.271	ATM	Zornitza Stark reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Sep 2023	Intellectual disability - microarray and sequencing v5.271	ESAM	Julia Baptista gene: ESAM was added gene: ESAM was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to PMID: 36996813 Phenotypes for gene: ESAM were set to severe ID; seizures, spasticity Review for gene: ESAM was set to GREEN Added comment: Lecca et al 2023 reported thirteen patients from eight unrelated families with biallelic loss of function variants (nonsense, frameshift, canonical splice site, all predicted to result in a transcript targeted for nonsense-mediated decay). Protein staining assays in one of the brain fetal samples confirmed loss the loss of protein. The phenotype reported in this cohort is of a severe neurodevelopmental disorder with brain anomalies (calcifications, hydrocephalus, enlarged ventricles, cerebral atrophy, etc), and dysmorphic features. Sources: Literature, Expert Review
31 Aug 2023	Intellectual disability - microarray and sequencing v5.271	TP63	Arina Puzriakova Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome; 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.268	U2AF2	celia duff changed review comment from: Literature evidence Ref1-5, identification of affected patients in the diagnostic setting (CVA database, 19:55661148:C>T ) and further accounts in open access databases (ClinVar and LOVD), make this gene suitable for clinical review and upgrading to a green gene status on relevant panels. It is associated with a phenotype encompassing dysmorphism, epilepsy, developmental delay, intellectual disability, and brain malformation Ref1-5. There is a recent publication that proposes an extension of this phenotype to include hypomyelination leukodystrophy Ref6. A loss of function mechanism has been suggested, associated with disruption of RNA recognition motifs required for the function of U2AF2 as a pre-mRNA splicing factor Ref4. At least one recurrent pathogenic variant has been identified by this review U2AF2 c.445C>T p.(Arg149Trp). U2AF2 is constrained for missense in gnomAD Z=4.71. total variants reported 1) De novo U2AF2 (NM_007279.3:c.445C>T p.(Arg149Trp)) recurrent variant; 1x patient in Hiraide (PubMed: 34112922), 1x patient in Kittock (PubMed: 37092751), 2x patients in Kaplanis (Pubmed: 33057194), 7x patients in the Leiden Open Variation Database (LOVD, https://www.lovd.nl/), 1x patient in house BGL and 4x additional on CVA 2) De novo U2AF2 c.603G>T; 1 patient in Wang 2023 (PubMed: 36747105) 3) De novo U2AF2 c.470C>T p.Pro157Leu) in Kuroda (PubMed: 37134193) 4) 9x additional pathogenic or likely pathogenic variants on LOVD 5) 2x additional likely pathogenic variants on ClinVar References 1. PubMed: 28135719 McRae (2017)-DDD data 2. PubMed: 31785789 Turner (2019)-DDD data 3. PubMed: 34112922 Hiraide (2021) de novo U2AF2 c.445C>T p.R149W 4. PubMed: 36747105 Wang (2023) de novo U2AF2 c.603G>T, p.163_201del 5. PubMed: 37092751 Kittock (2023) de novo U2AF2 c.445C>T p.R149W Possible emerging phenotype of hypomyelinating leukodystrophy 6. PubMed: 37134193 Kuroda (2023); to: Literature evidence Ref1-5, identification of affected patients in the diagnostic setting (CVA database, 19:55661148:C>T ) and further accounts in open access databases (ClinVar and LOVD), make this gene suitable for clinical review and upgrading to a green gene status on relevant panels. It is associated with a phenotype encompassing dysmorphism, epilepsy, developmental delay, intellectual disability, and brain malformation Ref1-5. There is a recent publication that proposes an extension of this phenotype to include hypomyelination leukodystrophy Ref6. A loss of function mechanism has been suggested, associated with disruption of RNA recognition motifs required for the function of U2AF2 as a pre-mRNA splicing factor Ref4. At least one recurrent pathogenic variant has been identified by this review U2AF2 c.445C>T p.(Arg149Trp). U2AF2 is constrained for missense in gnomAD Z=4.71. total variants/patients identified 1) De novo U2AF2 (NM_007279.3:c.445C>T p.(Arg149Trp)) recurrent variant; 1x patient in Hiraide (PubMed: 34112922), 1x patient in Kittock (PubMed: 37092751), 2x patients in Kaplanis (Pubmed: 33057194), 7x patients in the Leiden Open Variation Database (LOVD, https://www.lovd.nl/), 1x patient in house BGL and 4x additional on CVA 2) De novo U2AF2 c.603G>T; 1 patient in Wang 2023 (PubMed: 36747105) 3) De novo U2AF2 c.470C>T p.Pro157Leu) in Kuroda (PubMed: 37134193) 4) 9x additional pathogenic or likely pathogenic variants on LOVD 5) 2x additional likely pathogenic variants on ClinVar 6) We are collaborating with a researcher in the USA with a cohort of 40+ cases. References 1. PubMed: 28135719 McRae (2017)-DDD data 2. PubMed: 31785789 Turner (2019)-DDD data 3. PubMed: 34112922 Hiraide (2021) de novo U2AF2 c.445C>T p.R149W 4. PubMed: 36747105 Wang (2023) de novo U2AF2 c.603G>T, p.163_201del 5. PubMed: 37092751 Kittock (2023) de novo U2AF2 c.445C>T p.R149W Possible emerging phenotype of hypomyelinating leukodystrophy 6. PubMed: 37134193 Kuroda (2023)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.268	U2AF2	celia duff reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 28135719):(PMID: 31785789):(PMID: 34112922):(PMID: 36747105):(PMID: 37092751):(PMID 37134193); Phenotypes: intellectual disability, global developmental delay, dysmorphism, epilepsy, brain malformation, microcephaly, possible emerging phenotype of hypomyelinating leukodystrophy.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Deleted their comment
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Deleted their comment
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: NEUROG1. Tag Q3_23_NHS_review tag was added to gene: NEUROG1.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.265	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.265	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.264	NEUROG1	Achchuthan Shanmugasundram reviewed gene: NEUROG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23419067, 26077850, 33439489, 36647078; Phenotypes: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Aug 2023	Intellectual disability - microarray and sequencing v5.264	CMIP	Sarah Leigh reviewed gene: CMIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
24 Aug 2023	Intellectual disability - microarray and sequencing v5.264	CMIP	Sarah Leigh Classified gene: CMIP as Red List (low evidence)
24 Aug 2023	Intellectual disability - microarray and sequencing v5.264	CMIP	Sarah Leigh Gene: cmip has been classified as Red List (Low Evidence).
24 Aug 2023	Intellectual disability - microarray and sequencing v5.263	UQCRB	Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
24 Aug 2023	Intellectual disability - microarray and sequencing v5.262	CMIP	Sarah Leigh Publications for gene: CMIP were set to PMID: 22689534; 28504353
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Deleted their comment
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Deleted their comment
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Tag watchlist was removed from gene: ATP6V0C. Tag Q3_23_promote_green tag was added to gene: ATP6V0C. Tag Q3_23_NHS_review tag was added to gene: ATP6V0C.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.259	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.259	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.258	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.258	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 33190975; 33090716
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram edited their review of gene: ATP6V0C: Changed publications to: 24623842, 33190975, 36074901, 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram changed review comment from: 17 of 32 total patients had impaired intellectual development.; to: PMID:36074901 - 16 of 27 patients identified with monoallelic ATP6V0C variants, including a patient each from PMID:24623842 and PMID:33190975 had impaired intellectual development, while 21 patients had developmental delay. PMID:37161035 - One of three patients identified with monoallelic ATP6V0C variant had impaired intellectual development and language delay, while another had developmental delay and speech delay. This gene has been associated with relevant phenotypes in OMIM (MIM #620465) and Gene2Phenotype (with 'strong' rating in the DD panel).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram edited their review of gene: ATP6V0C: Changed publications to: 24623842, 33190975, 35600075, 36074901, 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33190975, 35600075, 36074901, 37161035; Phenotypes: Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Aug 2023	Intellectual disability - microarray and sequencing v5.257	PTCH1	Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome, 109400Basal cell carcinoma, somatic, 605462Holoprosencephaly-7, 610828; HOLOPROSENCEPHALY-7 to Holoprosencephaly 7, OMIM:610828
21 Aug 2023	Intellectual disability - microarray and sequencing v5.256	NEUROG1	Julia Baptista gene: NEUROG1 was added gene: NEUROG1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850 Phenotypes for gene: NEUROG1 were set to developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex Review for gene: NEUROG1 was set to GREEN Added comment: Five affected individuals from four independently reported families (Middle Eastern, Portuguese, Indian and Turkish backgrounds) with biallelic microdeletion, missense, nonsense or frameshift variants. Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking, sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII was reported. Developmental delay, poor speech, autistic behavior and dysmorphic facial features were also present. Sources: Literature
21 Aug 2023	Intellectual disability - microarray and sequencing v5.256	ATP6V0C	Julia Baptista reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, Intellectual Disability, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Aug 2023	Intellectual disability - microarray and sequencing v5.256	DNAH14	Sarah Leigh Publications for gene: DNAH14 were set to 35438214
17 Aug 2023	Intellectual disability - microarray and sequencing v5.256	DNAH14	Sarah Leigh Classified gene: DNAH14 as Red List (low evidence)
17 Aug 2023	Intellectual disability - microarray and sequencing v5.256	DNAH14	Sarah Leigh Gene: dnah14 has been classified as Red List (Low Evidence).
17 Aug 2023	Intellectual disability - microarray and sequencing v5.255	DNAH14	Sarah Leigh reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: None; Publications: 26036949, 30125339, 26636390, 32848021; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	FAM111A	Tracy Lester reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: 23684011, 37023242; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	CMIP	Tord Jonson edited their review of gene: CMIP: Changed phenotypes to: HP:0012759 Neurodevelopmental abnormality, HP:0000717 Autism, HP:0007018 Attention deficit hyperactivity disorder, HP:0001250 Seizure, HP:0011471 Gastrostomy tube feeding in infancy
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	CMIP	Tord Jonson changed review comment from: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures. Sources: Other; to: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures.
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	CMIP	Tord Jonson gene: CMIP was added gene: CMIP was added to Intellectual disability - microarray and sequencing. Sources: Other Mode of inheritance for gene: CMIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CMIP were set to PMID: 22689534; 28504353 Phenotypes for gene: CMIP were set to HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471 Penetrance for gene: CMIP were set to unknown Review for gene: CMIP was set to GREEN gene: CMIP was marked as current diagnostic Added comment: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures. Sources: Other
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Tag Q3_23_phenotype tag was added to gene: PABPC1.
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh edited their review of gene: PABPC1: Added comment: PABPC1 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35511136 reports four de novo PABPC1 variants in four unrelated cases with a phenotype of global DD, movement coordination disorders, seizures, behavioral disorders and mild facial dysmorphisms. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed. Molecular modeling of the variants suggested that they would result in a reduced binding affinity to the messenger RNA metabolism-related protein - PAIP2. This predicted effect was seen in coimmunoprecipitation assays between variant PABPC1 and PAIP2 (PMID: 35511136). Further functional studies in PMID: 35511136, showed that the proliferation of neural progenitor cells in Pabpc1 knockdown mouse embryo brains were decreased, this effect was rescued by the wild-type Pabpc1, but not by the variants c.1691A>G (p.Glu564Gly) or c.1709T>C (p.Ile570Thr). Other variants were identified in 3/4 cases in PMID: 35511136, two of these had a ACMG VUS classification (RBBP4: c.845A>G, p.(Asn282Ser), IGF2R: c.1850G>A p.Cys617Tyr), while the third variant was monoallelic, whereas bialleic variants in this gene are associated with disease (KDM5B: c.2265dupA, p.(Tyr755*))(PMID: 35511136, table 1).; Changed rating: GREEN
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PABPC1. Tag Q3_23_MOI tag was added to gene: PABPC1.
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Classified gene: PABPC1 as Amber List (moderate evidence)
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Gene: pabpc1 has been classified as Amber List (Moderate Evidence).
10 Aug 2023	Intellectual disability - microarray and sequencing v5.254	CLCNKA	Sarah Leigh Phenotypes for gene: CLCNKA were changed from Bartter syndrome, type 4b, digenic, 613090; Infantile Bartter syndrome with sensorineural deafness, intellectual disability to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
10 Aug 2023	Intellectual disability - microarray and sequencing v5.253	CLCNKA	Sarah Leigh Publications for gene: CLCNKA were set to
10 Aug 2023	Intellectual disability - microarray and sequencing v5.253	CLCNKA	Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
10 Aug 2023	Intellectual disability - microarray and sequencing v5.253	CLCNKA	Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from to Other
10 Aug 2023	Intellectual disability - microarray and sequencing v5.252	CLCNKB	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
10 Aug 2023	Intellectual disability - microarray and sequencing v5.252	CLCNKB	Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
10 Aug 2023	Intellectual disability - microarray and sequencing v5.251	CLCNKB	Sarah Leigh Tag digenic was removed from gene: CLCNKB. Tag monogenic-polygenic tag was added to gene: CLCNKB.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Deleted their comment
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Classified gene: MKL2 as Amber List (moderate evidence)
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are only two unrelated cases reported so far, this gene should be rated amber for now.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Gene: mkl2 has been classified as Amber List (Moderate Evidence).
09 Aug 2023	Intellectual disability - microarray and sequencing v5.250	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.250	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.250	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental phenotype with dysmorphic features to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.248	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.248	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to PMID:37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	MKL2	Achchuthan Shanmugasundram commented on gene: MKL2: PMID:37013900 - Two unrelated paediatric cases with de novo variants in MKL2 gene (p.Arg103Gly & p.Ala91Pro) were reported with mild dysmorphic features, severe intellectual disability, global developmental delays, speech apraxia, and impulse control issues. Functional studies in a Drosophila model suggest a gain of function disease mechanism.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	MKL2	Achchuthan Shanmugasundram reviewed gene: MKL2: Rating: AMBER; 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: 37013900; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	ATG4D	Achchuthan Shanmugasundram Classified gene: ATG4D as Amber List (moderate evidence)
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	ATG4D	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases with mild cognitive impairment and hence this gene should be rated amber with the current evidence.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	ATG4D	Achchuthan Shanmugasundram Gene: atg4d has been classified as Amber List (Moderate Evidence).
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram changed review comment from: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.; to: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. Based on the clinical, bioinformatic, and functional data, the authors also concluded that bi-allelic loss-of-function variants in ATG4D contribute to the pathogenesis of syndromic neurodevelopmental disorder. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram changed review comment from: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had cognitive impairment. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.; to: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder characterized by speech and motor impairment to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.245	ATG4D	Achchuthan Shanmugasundram edited their review of gene: ATG4D: Changed rating: AMBER; Changed publications to: 36765070; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Aug 2023	Intellectual disability - microarray and sequencing v5.245	AKT3	Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	ATG4D	Achchuthan Shanmugasundram commented on gene: ATG4D
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Deleted their comment
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Deleted their comment
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Classified gene: PSMC3 as Amber List (moderate evidence)
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene can be promoted to green rating at the next GMS review.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Gene: psmc3 has been classified as Amber List (Moderate Evidence).
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PSMC3.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from neurodevelopmental delay to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.240	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.240	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to PMID: 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.239	PSMC3	Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32500975, 37256937; Phenotypes: ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Deleted their comment
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Deleted their comment
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 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
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 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
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 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
08 Aug 2023	Intellectual disability - microarray and sequencing v5.237	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 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
08 Aug 2023	Intellectual disability - microarray and sequencing v5.236	KCNH5	Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.236	KCNH5	Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	KCNH5	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: KCNH5.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	KCNH5	Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23647072, 35874597, 36307226, 24133262; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	CLCNKB	Sarah Leigh Tag polygenic was removed from gene: CLCNKB. Tag digenic tag was added to gene: CLCNKB.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	CLCNKB	Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
08 Aug 2023	Intellectual disability - microarray and sequencing v5.234	LETM1	Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.234	SLC22A5	Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
08 Aug 2023	Intellectual disability - microarray and sequencing v5.233	SLC22A5	Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
07 Aug 2023	Intellectual disability - microarray and sequencing v5.233	RPS6KA3	Arina Puzriakova Tag Q3_23_MOI tag was added to gene: RPS6KA3.
07 Aug 2023	Intellectual disability - microarray and sequencing v5.233	RPS6KA3	Arina Puzriakova Publications for gene: RPS6KA3 were set to
07 Aug 2023	Intellectual disability - microarray and sequencing v5.232	RPS6KA3	Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from XLR to XLD (monoallelic variants in females may cause disease) at the next GMS panel update as several affected female carriers have been reported. ID in female carriers can range from mild to severe which is within the scope of the panel (PMIDs: 12210291; 12030896; 12558110; 17318637). This would also match the current MOI on other GMS panels and OMIM.
07 Aug 2023	Intellectual disability - microarray and sequencing v5.232	RPS6KA3	Arina Puzriakova Mode of inheritance for gene: RPS6KA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
07 Aug 2023	Intellectual disability - microarray and sequencing v5.231	RPS6KA3	Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844; COFFIN-LOWRY SYNDROME (CLS) to Coffin-Lowry syndrome, OMIM:303600; Intellectual developmental disorder, X-linked 19, OMIM:300844
05 Aug 2023	Intellectual disability - microarray and sequencing v5.230	KCNH5	Dmitrijs Rots reviewed gene: KCNH5: 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: 36307226, 35874597; Phenotypes: Neurodevelopmental disorder and Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Aug 2023	Intellectual disability - microarray and sequencing v5.230	LETM1	Sarah Leigh Entity copied from Ataxia and cerebellar anomalies - narrow panel v4.27
03 Aug 2023	Intellectual disability - microarray and sequencing v5.230	LETM1	Sarah Leigh gene: LETM1 was added gene: LETM1 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Expert Review Q3_23_promote_green, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
01 Aug 2023	Intellectual disability - microarray and sequencing v5.229	SLC25A24	Sarah Leigh Publications for gene: SLC25A24 were set to
01 Aug 2023	Intellectual disability - microarray and sequencing v5.228	SLC25A24	Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
01 Aug 2023	Intellectual disability - microarray and sequencing v5.227	SLC22A5	Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 10425211; 15714519; 10480371; 9700603; 2235122; 20027113; 9634512; 11058897; 3974805; 10051646
01 Aug 2023	Intellectual disability - microarray and sequencing v5.227	SLC22A5	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
01 Aug 2023	Intellectual disability - microarray and sequencing v5.227	SLC22A5	Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Aug 2023	Intellectual disability - microarray and sequencing v5.226	SLC22A5	Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
31 Jul 2023	Intellectual disability - microarray and sequencing v5.225	AGTPBP1	Achchuthan Shanmugasundram Classified gene: AGTPBP1 as Amber List (moderate evidence)
31 Jul 2023	Intellectual disability - microarray and sequencing v5.225	AGTPBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major update.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.225	AGTPBP1	Achchuthan Shanmugasundram Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe, and several patients were unable to speak or have eye contact. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram gene: AGTPBP1 was added gene: AGTPBP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTPBP1 were set to 30420557 Phenotypes for gene: AGTPBP1 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 Review for gene: AGTPBP1 was set to GREEN Added comment: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe, and several patients were unable to speak or have eye contact. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	ZNF292	Achchuthan Shanmugasundram reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 64, OMIM:619188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	PIP5K1C	Achchuthan Shanmugasundram Classified gene: PIP5K1C as Amber List (moderate evidence)
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	PIP5K1C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (nine unrelated cases and supporting functional evidence) for promoting this gene to green rating in the next GMS review.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	PIP5K1C	Achchuthan Shanmugasundram Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
31 Jul 2023	Intellectual disability - microarray and sequencing v5.222	PIP5K1C	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PIP5K1C.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.222	PIP5K1C	Achchuthan Shanmugasundram gene: PIP5K1C was added gene: PIP5K1C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIP5K1C were set to 37451268 Phenotypes for gene: PIP5K1C were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: PIP5K1C was set to GREEN Added comment: Three de novo heterozygous missense variants in PIP5K1C (p.Glu146Lys, p.Tyr205Cys & p.Tyr221Cys) were identified in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Intellectual disability was reported in all nine children and seizures were present in seven children, of which three had developmental and epileptic encephalopathy. In addition, there is functional evidence available, which includes an in vivo zebrafish model that recapitulates the human phenotype (developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities) (PMID:37451268). This gene has been associated with another phenotype (Lethal congenital contractural syndrome 3, MIM #611369) in both OMIM and Gene2Phenotype, but not yet associated with this neurodevelopmental disorders in either databases. Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.221	TMEM63B	Achchuthan Shanmugasundram Classified gene: TMEM63B as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.221	TMEM63B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) in support of promoting this gene to green rating in the next GMS review.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.221	TMEM63B	Achchuthan Shanmugasundram Gene: tmem63b has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.220	TMEM63B	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TMEM63B.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.220	TMEM63B	Achchuthan Shanmugasundram gene: TMEM63B was added gene: TMEM63B was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63B were set to 37421948 Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062 Review for gene: TMEM63B was set to GREEN Added comment: PMID:37421948 - 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Classified gene: DHX9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (eight unrelated cases) in support of promoting this gene to green rating at the next GMS review.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Gene: dhx9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Classified gene: DHX9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (eight unrelated cases) in support of promoting this gene to green rating at the next GMS review.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Gene: dhx9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.218	DHX9	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DHX9.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.218	DHX9	Achchuthan Shanmugasundram gene: DHX9 was added gene: DHX9 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX9 were set to 37467750 Phenotypes for gene: DHX9 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: DHX9 was set to GREEN Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CNOT9.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Classified gene: CNOT9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (seven unrelated cases) for this gene to be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Gene: cnot9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.216	CNOT9	Achchuthan Shanmugasundram gene: CNOT9 was added gene: CNOT9 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT9 were set to 37092538 Phenotypes for gene: CNOT9 were set to intellectual disability, MONDO:0001071 Review for gene: CNOT9 was set to GREEN Added comment: PMID:37092538 - Seven unrelated individuals with de novo variants in CNOT9 gene (one individual each with variants p.Arg46Gly, p.Pro131Leu and p.Arg227His and four individuals with p.Arg292Trp) were reported with a neurodevelopmental disorder. All affected persons have intellectual disability (three severe, three mild and one unclassified) and five of them have seizures. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.; to: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.; to: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.214	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.214	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SLC30A9.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from ?Birk-Landau-Perez syndrome 617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.212	SLC30A9	Achchuthan Shanmugasundram Publications for gene: SLC30A9 were set to 28334855
28 Jul 2023	Intellectual disability - microarray and sequencing v5.211	SLC30A9	Achchuthan Shanmugasundram reviewed gene: SLC30A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334855, 34716203, 37041080; Phenotypes: Birk-Landau-Perez syndrome, OMIM:617595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.210	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.210	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.210	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram edited their review of gene: DAGLA: 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
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950). This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DAGLA.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.206	DAGLA	Achchuthan Shanmugasundram Publications for gene: DAGLA were set to 35737950
25 Jul 2023	Intellectual disability - microarray and sequencing v5.206	DAGLA	Achchuthan Shanmugasundram Publications for gene: DAGLA were set to PMID: 35737950
25 Jul 2023	Intellectual disability - microarray and sequencing v5.205	DAGLA	Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ (PMID:35737950).; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.205	DAGLA	Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ (PMID:35737950).; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ (PMID:35737950).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.205	DAGLA	Achchuthan Shanmugasundram reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35737950; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Jul 2023	Intellectual disability - microarray and sequencing v5.205	BUB1	Arina Puzriakova Phenotypes for gene: BUB1 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability; Abnormal heart morphology; Growth delay to Microcephaly 30, primary, autosomal recessive, OMIM:620183
17 Jul 2023	Intellectual disability - microarray and sequencing v5.204	BUB1	Arina Puzriakova commented on gene: BUB1
17 Jul 2023	Intellectual disability - microarray and sequencing v5.204	BUB1	Arina Puzriakova Tag Q4_22_MOI was removed from gene: BUB1.
17 Jul 2023	Intellectual disability - microarray and sequencing v5.204	DAGLA	Irina Ziravecka gene: DAGLA was added gene: DAGLA was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAGLA were set to PMID: 35737950 Phenotypes for gene: DAGLA were set to developmental delay; ataxia; complex oculomotor abnormality Mode of pathogenicity for gene: DAGLA was set to Other Review for gene: DAGLA was set to GREEN Added comment: PMID: 35737950 - nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype. Sources: Literature
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.202	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.202	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.201	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.201	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.201	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability; Parkinsonism to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	PTPA	Achchuthan Shanmugasundram reviewed gene: PTPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36073231; Phenotypes: Intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.; to: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay supported by functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.197	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.197	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Postnatal microcephaly, progressive brain atrophy and global developmental delay to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.196	FOXR1	Achchuthan Shanmugasundram edited their review of gene: FOXR1: Changed phenotypes to: Global developmental delay, HP:0001263, microcephaly, MONDO:0001149, Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.196	FOXR1	Achchuthan Shanmugasundram reviewed gene: FOXR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34723967; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jul 2023	Intellectual disability - microarray and sequencing v5.196	KDM6B	Sarah Leigh Phenotypes for gene: KDM6B were changed from Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505 to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505; neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790
06 Jul 2023	Intellectual disability - microarray and sequencing v5.195	KDM6B	Sarah Leigh Publications for gene: KDM6B were set to 21937992; 31124279
05 Jul 2023	Intellectual disability - microarray and sequencing v5.194	DALRD3	Arina Puzriakova Classified gene: DALRD3 as Amber List (moderate evidence)
05 Jul 2023	Intellectual disability - microarray and sequencing v5.194	DALRD3	Arina Puzriakova Added comment: Comment on list classification: New gene added by Konstantinos Varvagiannis. Rating Amber as this is a good candidate gene but only a single family has been reported to date with variants. Additional evidence needed prior to adding the gene as diagnostic-grade.
05 Jul 2023	Intellectual disability - microarray and sequencing v5.194	DALRD3	Arina Puzriakova Gene: dalrd3 has been classified as Amber List (Moderate Evidence).
04 Jul 2023	Intellectual disability - microarray and sequencing v5.193	SMCHD1	Arina Puzriakova Mode of inheritance for gene: SMCHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Jun 2023	Intellectual disability - microarray and sequencing v5.191	PSMC3	Dmitrijs Rots gene: PSMC3 was added gene: PSMC3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC3 were set to PMID: 37256937 Phenotypes for gene: PSMC3 were set to neurodevelopmental delay Mode of pathogenicity for gene: PSMC3 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: PSMC3 was set to GREEN Added comment: 23 individuals with NDD due to 15 different de novo missense variants in PMID: 37256937. Sources: Literature
21 Jun 2023	Intellectual disability - microarray and sequencing v5.191	MKL2	Dmitrijs Rots gene: MKL2 was added gene: MKL2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MKL2 were set to PMID:37013900 Phenotypes for gene: MKL2 were set to neurodevelopmental phenotype with dysmorphic features Mode of pathogenicity for gene: MKL2 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: MKL2 was set to GREEN Added comment: 2 cases with de novo missense GoF variants in MRTFB (previously known as MKL2) + functional evidence Sources: Literature
20 Jun 2023	Intellectual disability - microarray and sequencing v5.191	EIF4A2	Sarah Leigh Classified gene: EIF4A2 as Amber List (moderate evidence)
20 Jun 2023	Intellectual disability - microarray and sequencing v5.191	EIF4A2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rating Green at the major review.
20 Jun 2023	Intellectual disability - microarray and sequencing v5.191	EIF4A2	Sarah Leigh Gene: eif4a2 has been classified as Amber List (Moderate Evidence).
20 Jun 2023	Intellectual disability - microarray and sequencing v5.190	EIF4A2	Sarah Leigh gene: EIF4A2 was added gene: EIF4A2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q3_23_promote_green tags were added to gene: EIF4A2. Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EIF4A2 were set to 36528028 Phenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder Review for gene: EIF4A2 was set to GREEN Added comment: EIF4A2 has not been associated with a phenotype in OMIM, Gen2Phen or Mondo at the time of reporting. PMID: 36528028 reports the findings of an international collaboration through Matchmaker Exchange, where EIF4A2 variants are found in cases with neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. A total of 15 EIF4A2 variants have been reported in PMID: 36528028, with 12 variants occurring as de novo monoallelic in 12 individuals and 3 as biallelic in two unrelated cases (one as homozygote and the other as compound heterozygous). Severe intellectual was seen in 6/10 unrelated cases where an assessment was made, epilepsy was evident in 10/14 unrelated cases and 13/14 cases had hyptonia. Functional studies were also presented and it would appear that both loss and gain functions maybe associated with EIF4A2 variants. Sources: Literature
14 Jun 2023	Intellectual disability - microarray and sequencing v5.189	TTI1	Sarah Leigh Classified gene: TTI1 as Amber List (moderate evidence)
14 Jun 2023	Intellectual disability - microarray and sequencing v5.189	TTI1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
14 Jun 2023	Intellectual disability - microarray and sequencing v5.189	TTI1	Sarah Leigh Gene: tti1 has been classified as Amber List (Moderate Evidence).
14 Jun 2023	Intellectual disability - microarray and sequencing v5.188	TTI1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: TTI1.
14 Jun 2023	Intellectual disability - microarray and sequencing v5.188	TTI1	Sarah Leigh gene: TTI1 was added gene: TTI1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI1 were set to 36724785 Phenotypes for gene: TTI1 were set to neurodevelopmental disorder with microcephaly Review for gene: TTI1 was set to GREEN Added comment: TTI1 has not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants have been reported. PMID: 36724785 reported 15 TTI1 variants as either homozygotes (2 families) or compound heterozygotes (7 families) in cases with a neurodevelopmental disorder with microcephaly. In all cases the parents were heterozygous carriers of the TTI1 variant identified in the affected child. Development delay was observed in all of the families (9/9), moderate to severe intellectual disability was evident in all families where it could be assessed (8/8) and severe microcephaly was present in members of 5/9 families. Supportive functional results were also presented. Sources: Literature
13 Jun 2023	Intellectual disability - microarray and sequencing v5.187	TSPOAP1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: TSPOAP1.
13 Jun 2023	Intellectual disability - microarray and sequencing v5.187	TSPOAP1	Sarah Leigh Entity copied from Childhood onset dystonia, chorea or related movement disorder v3.13
13 Jun 2023	Intellectual disability - microarray and sequencing v5.187	TSPOAP1	Sarah Leigh gene: TSPOAP1 was added gene: TSPOAP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Amber Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPOAP1 were set to 33539324 Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
13 Jun 2023	Intellectual disability - microarray and sequencing v5.186	SRRM2	Sarah Leigh Added comment: Comment on publications: www.hindawi.com/journals/humu/2023/6633248
13 Jun 2023	Intellectual disability - microarray and sequencing v5.186	SRRM2	Sarah Leigh Publications for gene: SRRM2 were set to 35567594; 33057194
06 Jun 2023	Intellectual disability - microarray and sequencing v5.185	GRM7	Achchuthan Shanmugasundram Classified gene: GRM7 as Amber List (moderate evidence)
06 Jun 2023	Intellectual disability - microarray and sequencing v5.185	GRM7	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (six unrelated cases and supporting mouse model) for this gene to be promoted to GREEN rating at the next GMS review.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.185	GRM7	Achchuthan Shanmugasundram Gene: grm7 has been classified as Amber List (Moderate Evidence).
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram Publications for gene: GRM7 were set to 32248644; 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram edited their review of gene: GRM7: Changed publications to: 32248644, 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram Publications for gene: GRM7 were set to 32248644; 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram Publications for gene: GRM7 were set to 2248644; 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.183	GRM7	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: GRM7.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.183	GRM7	Achchuthan Shanmugasundram gene: GRM7 was added gene: GRM7 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 2248644; 32286009 Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 Review for gene: GRM7 was set to GREEN Added comment: PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. This is also supported by functional evidence from knockout mouse models, where absence of metabotropic glutamate receptor 7 alters the phenotypes within the domains of social behavior, associative learning, motor function, epilepsy and sleep (PMID:32248644). This gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel). Sources: Literature
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, there is more than three unrelated cases with biallelic variants in CCDC82 presenting with a neurodevelopmental disorder comprising intellectual disability/ global developmental delay. Hence, this gene should be rated GREEN at the next GMS review.; to: As reviewed by Konstantinos Varvagiannis, there are more than three unrelated cases with biallelic variants in CCDC82 presenting with a neurodevelopmental disorder comprising intellectual disability/ global developmental delay. Hence, this gene should be rated GREEN at the next GMS review.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: CCDC82.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Classified gene: CCDC82 as Amber List (moderate evidence)
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Gene: ccdc82 has been classified as Amber List (Moderate Evidence).
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Classified gene: CCDC82 as Amber List (moderate evidence)
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Gene: ccdc82 has been classified as Amber List (Moderate Evidence).
06 Jun 2023	Intellectual disability - microarray and sequencing v5.181	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.181	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.181	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from Global developmental delay; Intellectual disability; Spastic paraparesis to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	CCDC82	Achchuthan Shanmugasundram commented on gene: CCDC82: As reviewed by Konstantinos Varvagiannis, there is more than three unrelated cases with biallelic variants in CCDC82 presenting with a neurodevelopmental disorder comprising intellectual disability/ global developmental delay. Hence, this gene should be rated GREEN at the next GMS review.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	CCDC82	Achchuthan Shanmugasundram reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: 27457812, 28397838, 35118659, 35373332; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh edited their review of gene: FLNA: Changed rating: RED
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh Tag Q2_23_demote_red tag was added to gene: FLNA.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh Publications for gene: FLNA were set to
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Deleted their comment
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: UBE3C.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Classified gene: UBE3C as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases associating biallelic variants in UBE3C gene with intellectual disability. Hence, this gene should be rated AMBER.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Gene: ube3c has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Classified gene: UBE3C as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases associating biallelic variants in UBE3C gene with intellectual disability. Hence, this gene should be rated AMBER.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Gene: ube3c has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.178	UBE3C	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: UBE3C.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.178	UBE3C	Achchuthan Shanmugasundram gene: UBE3C was added gene: UBE3C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3C were set to 36401616 Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270 Review for gene: UBE3C was set to AMBER Added comment: PMID:36401616 reported three patients from two unrelated families with homozygous variants in UBE3C gene and presenting with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. All three patients had severe intellectual disability. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. Sources: Literature
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Deleted their comment
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: HECTD4.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.175	HECTD4	Achchuthan Shanmugasundram gene: HECTD4 was added gene: HECTD4 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Review for gene: HECTD4 was set to GREEN Added comment: PMID:36401616 reported seven patients from five unrelated families with either homozygous (3 families) or compound heterozygous variants (2 families) in HECTD4 gene and presenting with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. All seven patients had severe (4 cases) or moderate (3 cases) intellectual disability. Sources: Literature
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.172	TRA2B	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TRA2B.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.172	TRA2B	Achchuthan Shanmugasundram Phenotypes for gene: TRA2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
01 Jun 2023	Intellectual disability - microarray and sequencing v5.172	TRA2B	Achchuthan Shanmugasundram Phenotypes for gene: TRA2B were changed from neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
01 Jun 2023	Intellectual disability - microarray and sequencing v5.171	TRA2B	Achchuthan Shanmugasundram edited their review of gene: TRA2B: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
01 Jun 2023	Intellectual disability - microarray and sequencing v5.171	TRA2B	Achchuthan Shanmugasundram changed review comment from: This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature; to: PMID:36549593 reported 12 individuals from 11 unrelated families identified with 11 different heterozygous variants in TRA2B gene. The variants arose de novo in 10 families, while the variant was inherited from father to son in one family. 6 variants were expected to disrupt the translation start site in exon 1 (start-loss variants), 3 were expected to disrupt the splicing process at the exon 2/3 boundary (splice-affecting variants), and the remaining 2 were expected to produce a premature stop codon (truncating variants). These patients presented with a neurodevelopmental disorder comprising developmental delay/ intellectual disability (in all patients), axial or global hypotonia (10 patients), delayed motor milestones (all patients), behavioural issues (8 patients), speech impairment (9 patients), epilepsy (7 patients, initial presentation as infantile spasms in 6 and unclassified epileptic encephalopathy in 1), brain abnormalities (10 patients) and microcephaly (5 patients). The degree of ID was severe to profound for 6 individuals, moderate to severe for 2 and mild to moderate for 3. In addition, functional studies in mice showed that heterozygous knockout mice developed normal, while complete knockout mice cannot develop embryonically. This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature
01 Jun 2023	Intellectual disability - microarray and sequencing v5.171	TRA2B	Achchuthan Shanmugasundram gene: TRA2B was added gene: TRA2B was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRA2B were set to 36549593 Phenotypes for gene: TRA2B were set to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 Review for gene: TRA2B was set to GREEN Added comment: This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ATG4D	Dmitrijs Rots gene: ATG4D was added gene: ATG4D was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG4D were set to 36765070 Phenotypes for gene: ATG4D were set to neurodevelopmental disorder characterized by speech and motor impairment Review for gene: ATG4D was set to GREEN Added comment: Morimoto et al., described 3 cases from 2 families with ATG4D biallelic variants and provided some functional evidence. No data about homozygous or compound heterozygous with two rare variants in ATG4D in gnomAD database. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: CLDN5.
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.168	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.168	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.168	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.167	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from epilepsy, MONDO:0005027 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram edited their review of gene: CLDN5: Changed phenotypes to: intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram changed review comment from: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. Sources: Literature; to: PMID:36477332 reported the identification of de novo heterozygous missense variants in CLDN5 in 15 unrelated patients who presented with a number of clinical features including developmental delay including intellectual disability, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognisable pattern of pontine atrophy and brain calcifications. All seven living patients over four years of age were reported to have intellectual disability. In addition, functional studies from zebrafish model also provided parallel evidence that CLDN5 variants cause a neurodevelopmental disorder involving disruption of the blood brain barrier and impaired neuronal function. This gene has been associated with relevant phenotypes in Gene2Phenotype (CLDN5-related neurodevelopmental disorder with 'limited' rating in the DD panel), but not in OMIM. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram edited their review of gene: CLDN5: Changed phenotypes to: intellectual disability, MONDO:0001071tual
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram gene: CLDN5 was added gene: CLDN5 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to 36477332 Phenotypes for gene: CLDN5 were set to epilepsy, MONDO:0005027 Review for gene: CLDN5 was set to GREEN Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.165	KDM2B	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	KDM2B	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	KDM2B	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.163	TCEAL1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TCEAL1.
31 May 2023	Intellectual disability - microarray and sequencing v5.163	TCEAL1	Achchuthan Shanmugasundram changed review comment from: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behavior, and mildly dysmorphic facial features. This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype. Sources: Literature; to: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behaviour, and mildly dysmorphic facial features. This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.163	TCEAL1	Achchuthan Shanmugasundram gene: TCEAL1 was added gene: TCEAL1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TCEAL1 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: TCEAL1 were set to 36368327 Phenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094 Review for gene: TCEAL1 was set to GREEN Added comment: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behavior, and mildly dysmorphic facial features. This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability reported (one in literature and another from Diagnostic Discovery initiative).; to: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability (one in literature and another from Diagnostic Discovery initiative).
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram Classified gene: FEM1C as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability reported (one in literature and another from Diagnostic Discovery initiative).
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram Gene: fem1c has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.161	FEM1C	Achchuthan Shanmugasundram changed review comment from: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.161	FEM1C	Achchuthan Shanmugasundram changed review comment from: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature; to: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.161	FEM1C	Achchuthan Shanmugasundram edited their review of gene: FEM1C: Changed rating: AMBER
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Classified gene: POU3F2 as Amber List (moderate evidence)
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Gene: pou3f2 has been classified as Amber List (Moderate Evidence).
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Classified gene: POU3F2 as Amber List (moderate evidence)
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Gene: pou3f2 has been classified as Amber List (Moderate Evidence).
30 May 2023	Intellectual disability - microarray and sequencing v5.160	POU3F2	Sarah Leigh gene: POU3F2 was added gene: POU3F2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: POU3F2. Mode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU3F2 were set to 37207645 Phenotypes for gene: POU3F2 were set to neurodevelopmental delay with hyperphagic obesity Review for gene: POU3F2 was set to GREEN Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37207645 reports eight POU3F2 variants in the unrelated cases of neurodevelopmental delay with hyperphagic obesity, with no other variants detected in other candidate genes. Intellectual disability was apparent in 6/7 of these cases from infancy to early childhood. The remaining variant : NM_005604.4 c.135C>A, p.Tyr45* was found in a mother and son, where the son was classified as having intellectual disability, the mother did not. Excluding the mother and son, all of the remaining cases carrying POU3F2 variants had neurodevelopmental delay. Sources: Literature
30 May 2023	Intellectual disability - microarray and sequencing v5.159	ETFB	Sarah Leigh Publications for gene: ETFB were set to 30847515; 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139
30 May 2023	Intellectual disability - microarray and sequencing v5.158	ETFB	Sarah Leigh Publications for gene: ETFB were set to 0
30 May 2023	Intellectual disability - microarray and sequencing v5.157	ETFB	Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
30 May 2023	Intellectual disability - microarray and sequencing v5.156	ETFA	Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
29 May 2023	Intellectual disability - microarray and sequencing v5.155	NUP214	Eleanor Williams Tag Q2_23_promote_green tag was added to gene: NUP214.
29 May 2023	Intellectual disability - microarray and sequencing v5.155	NUP214	Eleanor Williams commented on gene: NUP214: After consultation with the Genomics England clinical team it has been decided that there is just enough evidence to promote this gene to green as there are 4 unrelated families and developmental delay is reported in all.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FILIP1.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram changed review comment from: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated. This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.153	FILIP1	Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated. This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
25 May 2023	Intellectual disability - microarray and sequencing v5.153	FILIP1	Achchuthan Shanmugasundram gene: FILIP1 was added gene: FILIP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36344539; 37163662 Phenotypes for gene: FILIP1 were set to intellectual disability, MONDO:0001071 Review for gene: FILIP1 was set to GREEN Added comment: Sources: Literature
24 May 2023	Intellectual disability - microarray and sequencing v5.152	FLNA	Tracy Lester reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: 20301392; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN at the next major update.; to: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN rating at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Deleted their comment
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Classified gene: TAF4 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Gene: taf4 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Classified gene: TAF4 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Gene: taf4 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.151	INTS11	Arina Puzriakova Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Complex neurodevelopmental disorder, MONDO:0100038
22 May 2023	Intellectual disability - microarray and sequencing v5.150	INTS11	Arina Puzriakova commented on gene: INTS11
22 May 2023	Intellectual disability - microarray and sequencing v5.150	TAF4	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TAF4.
22 May 2023	Intellectual disability - microarray and sequencing v5.150	PRKACB	Arina Puzriakova Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, OMIM:619143
22 May 2023	Intellectual disability - microarray and sequencing v5.149	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.149	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.149	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from Developmental disorder to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 33875846; 28191890; 27026076
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.145	TAF4	Achchuthan Shanmugasundram reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191890, 33875846, 35904126; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ZMYND8.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND8	Achchuthan Shanmugasundram edited their review of gene: ZMYND8: Added comment: As reviewed by Konstantinos Varvagiannis, PMID:35916866 reported intellectual disability in10 out of 11 unrelated cases, of which one patient had profound ID and two had moderate ID. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype (with 'moderate' rating in the DD panel).; Changed phenotypes to: intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND8	Achchuthan Shanmugasundram reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530565, 35916866; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND15	Achchuthan Shanmugasundram Publications for gene: ZMYND15 were set to 35916866; 32530565
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram commented on gene: ZMYND15
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.137	ZMYND15	Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: ZMYND15.
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram changed review comment from: Comment on gene classification - This gene should remain as Green rating as there are four unrelated cases and two different variants reported. PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).; to: Comment on gene classification - This gene should remain as Green as there are four unrelated cases and two different variants reported. PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram changed review comment from: PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).; to: Comment on gene classification - This gene should remain as Green rating as there are four unrelated cases and two different variants reported. PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram changed review comment from: PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).; to: PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram reviewed gene: PRSS12: Rating: GREEN; Mode of pathogenicity: None; Publications: 12459588, 25529582; Phenotypes: Intellectual developmental disorder, autosomal recessive 1, OMIM:249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: MAN2C1.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.; to: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Abnormality of the corpus callosum; Ventriculomegaly; Polymicrogyria; Abnormality of the face; Macrocephaly to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.135	MAN2C1	Achchuthan Shanmugasundram commented on gene: MAN2C1: As reviewed by Konstantinos Varvagiannis, there are three unrelated cases reported with intellectual disability in PMID:35045343. In addition, this gene has been associated with relevant phenotypes in both OMIM (MIM #619775) and Gene2Phenotype (with 'strong' rating in DD panel).
17 May 2023	Intellectual disability - microarray and sequencing v5.135	MAN2C1	Achchuthan Shanmugasundram reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, OMIM:619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram changed review comment from: As reviewed already, there are two cases reported in PMIDs: 25885783 & 34645488. Additional cases were reported in PMIDs: 20655035 & 23352160, however without much clinical details. Hence, the rating should remain amber.; to: As reviewed already, there are two cases reported in PMIDs: 25885783 & 34645488. Additional cases were reported in PMIDs: 20655035 & 23352160, however without much clinical details. Hence, the rating should remain amber. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.132	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.131	FAAH2	Achchuthan Shanmugasundram reviewed gene: FAAH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25885783, 34645488; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.131	ITPR1	Arina Puzriakova Phenotypes for gene: ITPR1 were changed from Gillespie syndrome 206700 to Gillespie syndrome, OMIM:206700; Spinocerebellar ataxia 15, OMIM:606658; Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360
17 May 2023	Intellectual disability - microarray and sequencing v5.130	ITPR1	Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update inline with the review by Tracy Lester. Although not observed in all, some patients do exhibit cognitive deficits which may be an early and severe feature. There are sufficient unrelated cases with heterozygous variants and ID (associated with either Gillespie or SCA) to warrant including this MOI on this panel.
17 May 2023	Intellectual disability - microarray and sequencing v5.130	ITPR1	Arina Puzriakova Mode of inheritance for gene: ITPR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.129	ITPR1	Arina Puzriakova Publications for gene: ITPR1 were set to 22986007
17 May 2023	Intellectual disability - microarray and sequencing v5.128	ITPR1	Arina Puzriakova Tag Q2_23_MOI tag was added to gene: ITPR1. Tag Q2_23_NHS_review tag was added to gene: ITPR1.
17 May 2023	Intellectual disability - microarray and sequencing v5.128	BLM	Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; BLOOM SYNDROME to Bloom syndrome, OMIM:210900
17 May 2023	Intellectual disability - microarray and sequencing v5.128	BLM	Arina Puzriakova Publications for gene: BLM were set to
17 May 2023	Intellectual disability - microarray and sequencing v5.127	BLM	Arina Puzriakova reviewed gene: BLM: Rating: ; Mode of pathogenicity: None; Publications: 22514588, 23552953, 36646944; Phenotypes: ; Mode of inheritance: None
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.125	NSF	Achchuthan Shanmugasundram reviewed gene: NSF: Rating: RED; Mode of pathogenicity: None; Publications: 36645181; Phenotypes: Developmental and epileptic encephalopathy 96, OMIM:619340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 May 2023	Intellectual disability - microarray and sequencing v5.125	NSF	Achchuthan Shanmugasundram Publications for gene: NSF were set to 31675180; 36645181
17 May 2023	Intellectual disability - microarray and sequencing v5.125	NSF	Achchuthan Shanmugasundram Publications for gene: NSF were set to 31675180
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564; 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564; 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564; 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.123	ENTPD1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ENTPD1.
16 May 2023	Intellectual disability - microarray and sequencing v5.123	ENTPD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM. ; to: As reviewed by Konstantinos Varvagiannis, PMID:35471564 reported 27 cases from 17 families with biallelic variants in ENTPD1 and with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. PMID:35758610 reported two siblings with biallelic variants in ENTPD1. The proband was mildly intellectually disabled and her brother was moderately clinically disabled based on clinical observations. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.123	COASY	Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290; Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643
16 May 2023	Intellectual disability - microarray and sequencing v5.122	ENTPD1	Achchuthan Shanmugasundram edited their review of gene: ENTPD1: Changed publications to: 35471564, 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.122	COASY	Sarah Leigh Publications for gene: COASY were set to 24360804
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM. ; to: As reviewed by Konstantinos Varvagiannis, PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram Classified gene: ENTPD1 as Amber List (moderate evidence)
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to Green rating at the next major update.
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram Gene: entpd1 has been classified as Amber List (Moderate Evidence).
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been includes as part of the SPG64 phenotype in OMIM. ; to: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. Hence, this gene can be promoted to Green in the next major update.; to: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been includes as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007
16 May 2023	Intellectual disability - microarray and sequencing v5.119	ENTPD1	Achchuthan Shanmugasundram Classified gene: ENTPD1 as Amber List (moderate evidence)
16 May 2023	Intellectual disability - microarray and sequencing v5.119	ENTPD1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. Hence, this gene can be promoted to Green in the next major update.
16 May 2023	Intellectual disability - microarray and sequencing v5.119	ENTPD1	Achchuthan Shanmugasundram Gene: entpd1 has been classified as Amber List (Moderate Evidence).
16 May 2023	Intellectual disability - microarray and sequencing v5.118	ENTPD1	Achchuthan Shanmugasundram reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35471564; Phenotypes: Spastic paraplegia 64, autosomal recessive, OMIM:615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 May 2023	Intellectual disability - microarray and sequencing v5.118	COASY	Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, 615643 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290
11 May 2023	Intellectual disability - microarray and sequencing v5.117	SUFU	Arina Puzriakova Tag Q4_22_expert_review tag was added to gene: SUFU.
10 May 2023	Intellectual disability - microarray and sequencing v5.117	RNF13	Arina Puzriakova Phenotypes for gene: RNF13 were changed from Cortical visual impairment; Epileptic encephalopathy, early infantile, 73, 618379; Failure to thrive; Seizures; Congenital microcephaly; Abnormal muscle tone; Feeding difficulties; Intellectual disability; Global developmental delay; Sensorineural hearing impairment to Developmental and epileptic encephalopathy 73, OMIM:618379
10 May 2023	Intellectual disability - microarray and sequencing v5.116	CHMP3	Arina Puzriakova Classified gene: CHMP3 as Red List (low evidence)
10 May 2023	Intellectual disability - microarray and sequencing v5.116	CHMP3	Arina Puzriakova Added comment: Comment on list classification: Rating Red for now as only a single case has been reported to date.
10 May 2023	Intellectual disability - microarray and sequencing v5.116	CHMP3	Arina Puzriakova Gene: chmp3 has been classified as Red List (Low Evidence).
10 May 2023	Intellectual disability - microarray and sequencing v5.115	CHMP3	Arina Puzriakova gene: CHMP3 was added gene: CHMP3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP3 were set to 35710109 Phenotypes for gene: CHMP3 were set to Complex spastic quadriplegia associated with developmental delay and seizures Added comment: Cohen-Barak et al., 2022 (PMID: 35710109) reported on a consanguineous family, in which five individuals presented with intellectual and progressive motor disabilities, seizures and spastic quadriplegia, associated with a homozygous variant in CHMP3. Patient derived fibroblasts expressed ultrastructural and molecular features of impaired autophagy, partially rescued by ectopic expression of WT-CHMP3. Sources: Literature
10 May 2023	Intellectual disability - microarray and sequencing v5.114	RAC3	Arina Puzriakova Publications for gene: RAC3 were set to 29276006; 30293988
10 May 2023	Intellectual disability - microarray and sequencing v5.113	RAC3	Arina Puzriakova Classified gene: RAC3 as Green List (high evidence)
10 May 2023	Intellectual disability - microarray and sequencing v5.113	RAC3	Arina Puzriakova Gene: rac3 has been classified as Green List (High Evidence).
10 May 2023	Intellectual disability - microarray and sequencing v5.112	RAC3	Arina Puzriakova All sources for gene: RAC3 were removed
10 May 2023	Intellectual disability - microarray and sequencing v5.112	RAC3	Arina Puzriakova All sources for gene: RAC3 were removed
10 May 2023	Intellectual disability - microarray and sequencing v5.111	GRIN2B	Arina Puzriakova Publications for gene: GRIN2B were set to
10 May 2023	Intellectual disability - microarray and sequencing v5.110	GRIN2B	Arina Puzriakova Phenotypes for gene: GRIN2B were changed from Mental Retardation, Dominant; Mental retardation, autosomal dominant 6, 613970; AUTISM to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139
09 May 2023	Intellectual disability - microarray and sequencing v5.109	LHX2	Sarah Leigh Classified gene: LHX2 as Amber List (moderate evidence)
09 May 2023	Intellectual disability - microarray and sequencing v5.109	LHX2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
09 May 2023	Intellectual disability - microarray and sequencing v5.109	LHX2	Sarah Leigh Gene: lhx2 has been classified as Amber List (Moderate Evidence).
09 May 2023	Intellectual disability - microarray and sequencing v5.108	LHX2	Sarah Leigh gene: LHX2 was added gene: LHX2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: LHX2. Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LHX2 were set to 37057675 Phenotypes for gene: LHX2 were set to neurodevelopmental disorder Review for gene: LHX2 was set to GREEN Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominanly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants. Sources: Literature
09 May 2023	Intellectual disability - microarray and sequencing v5.107	ITPR1	Tracy Lester edited their review of gene: ITPR1: Added comment: PMID:29925855 - All 7 EOA patients with ITPR1 de novo variants (3 from cohort #1; 4 from cohort #2) presented with infantile onset cerebellar ataxia starting before the age of 2 years, including delayed motor milestones (Table 2). Cognitive deficits of variable degree were observed in 3 out of 4 patients where this information was available, reaching from only mild dyscalculia (P2) to severe intellectual disability with a speech vocabulary of only a few words (P7 at age 12 years). In contrast, patient P1 showed normal intelligence with an IQ of 97. PMID:27108797 - Here, we report that both recessive and dominant ITPR1 mutations cause Gillespie syndrome. ITPR1 is a predominant isoform in the brain among the three types of ITPRs and is strongly expressed in cerebellar Purkinje cells.31 Mice with complete homozygosity for Itpr1 ablation suffer from severe epilepsy and ataxia and die either in utero or before weaning.32 Consistently, ITPR1 mutations have been reported to cause cerebellar diseases including late-onset spinocerebellar ataxia type 15 (SCA15 [MIM: 606658]),33 congenital nonprogressive spinocerebellar ataxia and mild cognitive impairment (SCA29 [MIM: 117360]),34 infantile-onset cerebellar ataxia with mild cognitive deficit,35 and childhood-onset ataxic cerebellar palsy with moderate intellectual disability36 (see ITPR1 schematic diagram in Figure 3A). Affected individuals had similar iris anomalies and neonatal ataxia with progressive cerebellar atrophy (Figure 2). Moderate to severe intellectual disabilities were noted in the three individuals with recessive mutations (F1:II1, F2:II1, and F3:II1; Table 1). In contrast, the affected individual F4:II1 aged 18 years and harboring the de novo c.7687_7689del mutation was reported to have normal intelligence (Table 1). As de novo variants are associated with ID/DD the inheritance should be updated to be BOTH AD and AR.; Set current diagnostic: yes
09 May 2023	Intellectual disability - microarray and sequencing v5.107	ITPR1	Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29925855, 27108797; Phenotypes: developmental delay, intellectual disability, hypotonia, ataxia, cerebellar malformatons; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.105	SLC32A1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SLC32A1.
04 May 2023	Intellectual disability - microarray and sequencing v5.105	SLC32A1	Achchuthan Shanmugasundram changed review comment from: PMID:36073542 reported four unrelated patients with four different de novo missense variants in SLC32A1 gene reported with global developmental delay, moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses showed that these variants can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Sources: Literature; to: PMID:36073542 reported four unrelated patients with four different de novo missense variants in SLC32A1 gene reported with global developmental delay, moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses showed that these variants can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Although this gene has not yet been associated with phenotypes in OMIM, it has been added to Gene2Phenotype with 'moderate' rating in the DD panel. Sources: Literature
04 May 2023	Intellectual disability - microarray and sequencing v5.105	SLC32A1	Achchuthan Shanmugasundram gene: SLC32A1 was added gene: SLC32A1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC32A1 were set to 36073542 Phenotypes for gene: SLC32A1 were set to developmental and epileptic encephalopathy, MONDO:0100062 Review for gene: SLC32A1 was set to GREEN Added comment: PMID:36073542 reported four unrelated patients with four different de novo missense variants in SLC32A1 gene reported with global developmental delay, moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses showed that these variants can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Sources: Literature
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.98	CSTF2	Achchuthan Shanmugasundram reviewed gene: CSTF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32816001; Phenotypes: Intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.98	HIST1H4E	Ronnie Wright reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
03 May 2023	Intellectual disability - microarray and sequencing v5.98	SRRM2	Alistair Pagnamenta reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35567594, 33057194; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PRKAR1B.
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 25414040
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PRKAR1B	Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 (16 individuals from 12 families) shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).; to: As reviewed by Konstantinos Varvagiannis, all individuals (16 individuals from 12 families) reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).; to: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 (16 individuals from 12 families) shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PPFIBP1.
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of brain morphology; Abnormality of the cerebral white matter; Cerebral calcification; Abnormal cortical gyration; Hypertonia; Spastic tetraplegia; Generalized hypotonia; Small for gestational age; Growth delay; Failure to thrive; Feeding difficulties; abnormal heart morphology; Hearing abnormality; Cryptorchidism; Abnormality of vision to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.90	PPFIBP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16).; to: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).
03 May 2023	Intellectual disability - microarray and sequencing v5.90	PPFIBP1	Achchuthan Shanmugasundram edited their review of gene: PPFIBP1: Changed phenotypes to: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.90	PPFIBP1	Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35830857; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 May 2023	Intellectual disability - microarray and sequencing v5.90	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.90	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.90	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: KDM2B.
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Publications for gene: KDM2B were set to 36322151
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Publications for gene: KDM2B were set to PMID: 36322151; 35128353; 35710456
03 May 2023	Intellectual disability - microarray and sequencing v5.86	KDM2B	Achchuthan Shanmugasundram reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36322151; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.87	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.87	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.87	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194
03 May 2023	Intellectual disability - microarray and sequencing v5.85	HNRNPD	Achchuthan Shanmugasundram Tag watchlist tag was added to gene: HNRNPD.
03 May 2023	Intellectual disability - microarray and sequencing v5.85	HNRNPD	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), several additional individuals with neurodevelopmental disorders carrying de novo HNRNPD variants identified in an international cohort have been reported in PMID:33874999. These probands displayed a high prevalence of DD/ID, speech delay, and ASD and/or other behavioural phenotypes. As this is a large cohort study and there is no complete information about DD/ID phenotypes in these probands, this gene should remain as AMBER.; to: As reviewed by Zornitza Stark (Australian Genomics), several additional individuals with neurodevelopmental disorders carrying de novo HNRNPD variants identified in an international cohort have been reported in PMID:33874999. These probands displayed a high prevalence of DD/ID, speech delay, and ASD and/or other behavioural phenotypes. As this is a large cohort study and there is no complete information about DD/ID phenotypes in these probands, this gene should remain as AMBER. The 'watchlist' tag has been added to review this rating in light of new evidence in the future.
03 May 2023	Intellectual disability - microarray and sequencing v5.85	HNRNPD	Achchuthan Shanmugasundram reviewed gene: HNRNPD: Rating: AMBER; Mode of pathogenicity: None; Publications: 33874999; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2023	Intellectual disability - microarray and sequencing v5.85	WIPI2	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.; to: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability (moderate to profound) and supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
02 May 2023	Intellectual disability - microarray and sequencing v5.85	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: WIPI2.
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.82	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.82	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.81	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Red List (low evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.81	WIPI2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
02 May 2023	Intellectual disability - microarray and sequencing v5.81	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Red List (Low Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.80	WIPI2	Achchuthan Shanmugasundram reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30968111, 34557665; Phenotypes: ?Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PLXNA1.
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Deleted their comment
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Classified gene: PLXNA1 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to GREEN at the next major review. The MOI can also be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are more than three cases each with both monoallelic and biallelic variants.
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Gene: plxna1 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.79	PLXNA1	Achchuthan Shanmugasundram Classified gene: PLXNA1 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.79	PLXNA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to GREEN at the next major review. The MOI can also be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are more than three cases each with both monoallelic and biallelic variants.
02 May 2023	Intellectual disability - microarray and sequencing v5.79	PLXNA1	Achchuthan Shanmugasundram Gene: plxna1 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.77	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.77	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.77	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies to Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.76	PLXNA1	Achchuthan Shanmugasundram Publications for gene: PLXNA1 were set to 28464511; 34054129; 34415653
02 May 2023	Intellectual disability - microarray and sequencing v5.76	PLXNA1	Achchuthan Shanmugasundram Publications for gene: PLXNA1 were set to 34054129
02 May 2023	Intellectual disability - microarray and sequencing v5.75	PLXNA1	Achchuthan Shanmugasundram Deleted their review
02 May 2023	Intellectual disability - microarray and sequencing v5.75	PLXNA1	Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28464511, 34054129, 34415653; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955, developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 May 2023	Intellectual disability - microarray and sequencing v5.75	PLXNA1	Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28464511, 34054129, 34415653; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955, developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: KIF4A.
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067; 34346154
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from INTELLECTUAL DISABILITY to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067; 34346154
02 May 2023	Intellectual disability - microarray and sequencing v5.73	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067; 34346154
02 May 2023	Intellectual disability - microarray and sequencing v5.73	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067
02 May 2023	Intellectual disability - microarray and sequencing v5.72	KIF4A	Achchuthan Shanmugasundram Classified gene: KIF4A as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.72	KIF4A	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. This evidence is sufficient for promoting to GREEN rating at the next major review.
02 May 2023	Intellectual disability - microarray and sequencing v5.72	KIF4A	Achchuthan Shanmugasundram Gene: kif4a has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.71	KIF4A	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case. This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.; to: PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case. This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.
02 May 2023	Intellectual disability - microarray and sequencing v5.71	KIF4A	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case.; to: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case. This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.
02 May 2023	Intellectual disability - microarray and sequencing v5.71	KIF4A	Achchuthan Shanmugasundram reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24812067, 34346154; Phenotypes: ?Intellectual developmental disorder, X-linked 100, OMIM:300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: DDX23.
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Classified gene: DDX23 as Amber List (moderate evidence)
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS review.
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Gene: ddx23 has been classified as Amber List (Moderate Evidence).
01 May 2023	Intellectual disability - microarray and sequencing v5.70	DDX23	Achchuthan Shanmugasundram reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: None; Publications: 34050707; Phenotypes: global developmental delay with speech and behavioral abnormalities, MONDO:0030995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: INTS11.
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram changed review comment from: PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. Sources: Literature; to: PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram Classified gene: INTS11 as Amber List (moderate evidence)
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram Gene: ints11 has been classified as Amber List (Moderate Evidence).
26 Apr 2023	Intellectual disability - microarray and sequencing v5.69	INTS11	Achchuthan Shanmugasundram Classified gene: INTS11 as Amber List (moderate evidence)
26 Apr 2023	Intellectual disability - microarray and sequencing v5.69	INTS11	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (10 unrelated cases and supporting functional evidence) for this gene to be promoted to green at the next major review.
26 Apr 2023	Intellectual disability - microarray and sequencing v5.69	INTS11	Achchuthan Shanmugasundram Gene: ints11 has been classified as Amber List (Moderate Evidence).
26 Apr 2023	Intellectual disability - microarray and sequencing v5.68	INTS11	Achchuthan Shanmugasundram gene: INTS11 was added gene: INTS11 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711 Phenotypes for gene: INTS11 were set to intellectual disability, MONDO:0001071 Review for gene: INTS11 was set to GREEN Added comment: PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. Sources: Literature
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	PLK1	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	PLK1	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	PLK1	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	TAF2	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	TAF2	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram changed review comment from: Four different heterozygous variants in GRIA1 (p.Ala636Thr, p.Gly745Asp, p.Ile627Thr & p.Arg345Gln) have been identified in six unrelated individuals and they were all reported with intellectual disability, moderate to severe cognitive impairment, delayed motor development, speech impairment and behavioural issues such as anxiety, autism spectrum disorder and attention deficit hyperactivity disorder. Homozygous variant (p.Arg377Ter) has been identified in one individual, who presented with intellectual disability, severe cognitive impairment, delayed motor development, speech impairment (non-verbal) and self-injurious behaviour. In vitro functional studies with major GluA1-containing AMPAR subtypes carrying the GRIA1 variant mutations showed that three of the four missense variants profoundly perturb receptor function. The homozygous stop-gain variant completely destroyed the expression of GluA1-containing AMPARs. The Xenopus gria1 models also show transient motor deficits, an intermittent seizure phenotype, and a significant impairment to working memory in mutants.; to: Four different heterozygous variants in GRIA1 (p.Ala636Thr, p.Gly745Asp, p.Ile627Thr & p.Arg345Gln) have been identified in six unrelated individuals and they were all reported with intellectual disability, moderate to severe cognitive impairment, delayed motor development, speech impairment and behavioural issues such as anxiety, autism spectrum disorder and attention deficit hyperactivity disorder. Homozygous variant (p.Arg377Ter) has been identified in one individual, who presented with intellectual disability, severe cognitive impairment, delayed motor development, speech impairment (non-verbal) and self-injurious behaviour. In vitro functional studies with major GluA1-containing AMPAR subtypes carrying the GRIA1 variant mutations showed that three of the four missense variants profoundly perturb receptor function. The homozygous stop-gain variant completely destroyed the expression of GluA1-containing AMPARs. The Xenopus gria1 models also show transient motor deficits, an intermittent seizure phenotype, and a significant impairment to working memory in mutants. This gene has also been associated with relevant phenotypes in both OMIM (MIM #619927 & MIM #619931) and Gene2Phenotype (with 'moderate' rating).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Tag watchlist was removed from gene: GRIA1. Tag Q2_23_promote_green tag was added to gene: GRIA1.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual disability to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
20 Apr 2023	Intellectual disability - microarray and sequencing v5.61	GRIA1	Achchuthan Shanmugasundram reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35675825; Phenotypes: Intellectual developmental disorder, autosomal dominant 67, OMIM:619927, ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2023	Intellectual disability - microarray and sequencing v5.61	C2orf69	Arina Puzriakova Entity copied from Mitochondrial disorders v4.27
18 Apr 2023	Intellectual disability - microarray and sequencing v5.61	C2orf69	Arina Puzriakova gene: C2orf69 was added gene: C2orf69 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: C2orf69. Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 34038740; 33945503 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TAF2.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 24084144; 26350204
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	TAF2	Achchuthan Shanmugasundram reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 24084144, 34474177; Phenotypes: Mental retardation, autosomal recessive 40, OMIM:615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SHANK1.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from AUTISM to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.54	SHANK1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), PMID:34113010 reported six individuals who presented with neurodevelopmental disorders and identified with de novo truncating variants in SHANK1 gene. Of these six individuals, four had intellectual disability, one had severe learning difficulties and one with auditory processing disorder, difficulty with executive functioning, mathematic concepts, verbal reasoning and problem solving.; to: As reviewed by Zornitza Stark (Australian Genomics), PMID:34113010 reported six unrelated individuals who presented with neurodevelopmental disorders and identified with de novo truncating variants in SHANK1 gene. Of these six individuals, four had intellectual disability, one had severe learning difficulties and one with auditory processing disorder, difficulty with executive functioning, mathematic concepts, verbal reasoning and problem solving. Three of these patients were also reported with autism spectrum disorder. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'strong' rating in the DD panel).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.54	SHANK1	Achchuthan Shanmugasundram Publications for gene: SHANK1 were set to 0
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	SHANK1	Achchuthan Shanmugasundram edited their review of gene: SHANK1: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	SHANK1	Achchuthan Shanmugasundram edited their review of gene: SHANK1: Added comment: As reviewed by Zornitza Stark (Australian Genomics), PMID:34113010 reported six individuals who presented with neurodevelopmental disorders and identified with de novo truncating variants in SHANK1 gene. Of these six individuals, four had intellectual disability, one had severe learning difficulties and one with auditory processing disorder, difficulty with executive functioning, mathematic concepts, verbal reasoning and problem solving.; Changed phenotypes to: nearodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	SHANK1	Achchuthan Shanmugasundram reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34113010; Phenotypes: neurocde; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.52	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.52	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.52	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to PMID: 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	PLK1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PLK1.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	PLK1	Achchuthan Shanmugasundram reviewed gene: PLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram changed review comment from: PMID:31997314 reported a patient presenting with severe global developmental delay, language impairment and epileptic encephalopathy and was identified with homozygous variant in OTUD7A gene (c.697C>T)/ p.Leu233Phe). PMID:33381903 reported a patient with profound hypotonia, severe intellectual disability, and seizures and identified with biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del/ p.Glu375Aspfs11. PMID:36180924 reported a patient (patient #4) presenting with severe neurodevelopmental diseases and dysmorphic features and identified with hemizygous OTUD7A frameshift variant allele c.2023_2066del/ p.D675Hfs188 in trans with the recurrent 15q13.3 BP4-BP5 deletion. OTUD7A knockout mice exhibited reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalisations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (PMID:29395075). The function evidence also suggest that OTUD7A may be the critical “driver gene” in the 15q13.3 deletion syndrome.; to: PMID:31997314 reported a patient presenting with severe global developmental delay, language impairment and epileptic encephalopathy and was identified with homozygous variant in OTUD7A gene (c.697C>T)/ p.Leu233Phe). PMID:33381903 reported a patient with profound hypotonia, severe intellectual disability, and seizures and identified with biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del/ p.Glu375Aspfs11. PMID:36180924 reported a patient (patient #4) presenting with severe neurodevelopmental diseases and dysmorphic features and identified with hemizygous OTUD7A frameshift variant allele c.2023_2066del/ p.D675Hfs188 in trans with the recurrent 15q13.3 BP4-BP5 deletion. OTUD7A knockout mice exhibited reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalisations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (PMID:29395075). The function evidence also suggest that OTUD7A may be the critical “driver gene” in the 15q13.3 deletion syndrome. This gene has been reported in the DD panel of Gene2Phenotype (with 'limited' rating), but has not yet been associated with phenotypes in OMIM.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: OTUD7A.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.48	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.48	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074
17 Apr 2023	Intellectual disability - microarray and sequencing v5.47	OTUD7A	Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2023	Intellectual disability - microarray and sequencing v5.47	CLCN4	Arina Puzriakova Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49-15 300114 to Raynaud-Claes syndrome, OMIM:300114
13 Apr 2023	Intellectual disability - microarray and sequencing v5.46	PDHX	Arina Puzriakova Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency 245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
13 Apr 2023	Intellectual disability - microarray and sequencing v5.45	PDHB	Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
13 Apr 2023	Intellectual disability - microarray and sequencing v5.44	PC	Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150; PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY) to Pyruvate carboxylase deficiency, OMIM:266150
13 Apr 2023	Intellectual disability - microarray and sequencing v5.43	NDUFS1	Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, 252010; LEIGH SYNDROME (NUCLEAR DNA MUTATION) to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
13 Apr 2023	Intellectual disability - microarray and sequencing v5.42	DARS2	Arina Puzriakova Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
13 Apr 2023	Intellectual disability - microarray and sequencing v5.41	SUCLA2	Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
13 Apr 2023	Intellectual disability - microarray and sequencing v5.40	NADK2	Arina Puzriakova Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
13 Apr 2023	Intellectual disability - microarray and sequencing v5.39	COX14	Arina Puzriakova Mode of inheritance for gene: COX14 was changed from MITOCHONDRIAL to BIALLELIC, autosomal or pseudoautosomal
12 Apr 2023	Intellectual disability - microarray and sequencing v5.38	NAPB	Arina Puzriakova Phenotypes for gene: NAPB were changed from Early infantile epileptic encephalopathy to Developmental and epileptic encephalopathy 107, OMIM:620033
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram changed review comment from: There are more than 20 unrelated cases identified with variants in IQSEC2 gene, as reported in publications. Moderate to severe intellectual disability was present in all affected males. De novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients account for a milder disease overall, with more severe symptoms in males than females. This evidence suggests that the MOI should be 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'. Both OMIM and Gene2Phenotype have associated X-linked dominant variants in IQSEC2 with intellectual disability (MIM #309530); to: There are more than 20 unrelated cases identified with variants in IQSEC2 gene, as reported in publications. Moderate to severe intellectual disability was present in all affected males. De novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients account for a milder disease overall, with more severe symptoms in males than females.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	IQSEC2	Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: IQSEC2.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	IQSEC2	Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20473311, 23674175, 30842726, 31415821, 33368194; Phenotypes: Intellectual developmental disorder, X-linked 1, OMIM:309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: HUWE1.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.; to: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type, 300706; MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE (MRXST) to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	HUWE1	Achchuthan Shanmugasundram reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29180823; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Tag watchlist tag was added to gene: TRAPPC10.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849
12 Apr 2023	Intellectual disability - microarray and sequencing v5.25	TRAPPC10	Achchuthan Shanmugasundram reviewed gene: TRAPPC10: Rating: AMBER; Mode of pathogenicity: None; Publications: 30167849, 35298461; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), there is sufficient evidence for this gene to be promoted to GREEN in the next major review. This gene can be associated with both monoallelic and biallelic inheritance as there are at least three cases each for both of them.; to: Comment on list classification:, There is sufficient evidence for this gene to be promoted to GREEN at the next major review. This gene can be associated with both monoallelic and biallelic inheritance as there are at least three cases each for both of them.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: KDM5A.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: KDM5A.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram changed review comment from: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment. In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.; to: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment. In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice. This gene has already been associated with phenotype in Gene2Phenotype (biallelic inheritance with 'limited' rating), but not in OMIM.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram Classified gene: KDM5A as Amber List (moderate evidence)
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), there is sufficient evidence for this gene to be promoted to GREEN in the next major review. This gene can be associated with both monoallelic and biallelic inheritance as there are at least three cases each for both of them.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram Gene: kdm5a has been classified as Amber List (Moderate Evidence).
11 Apr 2023	Intellectual disability - microarray and sequencing v5.23	KDM5A	Achchuthan Shanmugasundram changed review comment from: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.; to: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment. In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.23	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.23	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.20	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.20	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	KDM5A	Achchuthan Shanmugasundram changed review comment from: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech and developmental delay.; to: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	KDM5A	Achchuthan Shanmugasundram reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 33350388; Phenotypes: autism spectrum disorder, MONDO:0005258, intellectual disability, MONDO:0001071; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	SPG7	Sarah Leigh commented on gene: SPG7
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	SPG7	Sarah Leigh Publications for gene: SPG7 were set to 22571692
11 Apr 2023	Intellectual disability - microarray and sequencing v5.18	SPG7	Sarah Leigh Mode of inheritance for gene: SPG7 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
11 Apr 2023	Intellectual disability - microarray and sequencing v5.17	SPG7	Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
06 Apr 2023	Intellectual disability - microarray and sequencing v5.16	SPTAN1	Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Epileptic encephalopathy, early infantile, 5, 613477; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 (EIEE5) to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
06 Apr 2023	Intellectual disability - microarray and sequencing v5.15	SPTAN1	Sarah Leigh Publications for gene: SPTAN1 were set to
04 Apr 2023	Intellectual disability - microarray and sequencing v5.14	NFASC	Sarah Leigh Phenotypes for gene: NFASC were changed from Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
04 Apr 2023	Intellectual disability - microarray and sequencing v5.13	MED11	Sarah Leigh Classified gene: MED11 as Amber List (moderate evidence)
04 Apr 2023	Intellectual disability - microarray and sequencing v5.13	MED11	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
04 Apr 2023	Intellectual disability - microarray and sequencing v5.13	MED11	Sarah Leigh Gene: med11 has been classified as Amber List (Moderate Evidence).
04 Apr 2023	Intellectual disability - microarray and sequencing v5.12	MED11	Sarah Leigh gene: MED11 was added gene: MED11 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: MED11. Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086 Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder Review for gene: MED11 was set to GREEN Added comment: Not associated with a phenotype in OMIM, but is associated with MED11-associated neurodevelopmental disorder in Gen2Phen. PMID: 36001086 reports a single MED11 variant (NM_001001683.4: c.325C>T, p.Arg109*), that segregates with the condition in five unrelated families, however, there is homozygosity between two of these families, idicating that they may be related. Global delay was observed in three individuals from three unrelated familes and seizures were evident in four individuals from four unrelated families. Severe microcephaly was apparent in the two unrelated familes where this parameter was recorded. Overall, the MED11-associated neurodevelopmental disorder appeared to result in profound effects and proved fatal at birth and 10 days in two of the cases reported. Sources: Literature
28 Mar 2023	Intellectual disability - microarray and sequencing v5.11	KDM5A	Tracy Lester reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 33350388; Phenotypes: ASD, lack of speech; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.; to: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and the association is supported by functional studies from mouse models. This gene therefore has sufficient evidence for promotion to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.; to: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: UBAP2L.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.; to: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases and supporting functional evidence) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.7	CAPRIN1	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.7	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.7	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CAPRIN1.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862; 36345169
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862; 36345169
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862; 36345169
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862
23 Mar 2023	Intellectual disability - microarray and sequencing v5.3	FEM1C	Achchuthan Shanmugasundram Publications for gene: FEM1C were set to 36336956
23 Mar 2023	Intellectual disability - microarray and sequencing v5.2	FEM1C	Achchuthan Shanmugasundram edited their review of gene: FEM1C: Changed publications to: 28135719, 36336956
23 Mar 2023	Intellectual disability - microarray and sequencing v5.2	FEM1C	Achchuthan Shanmugasundram gene: FEM1C was added gene: FEM1C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FEM1C were set to 36336956 Phenotypes for gene: FEM1C were set to Intellectual disability, MONDO:0001071 Review for gene: FEM1C was set to RED Added comment: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
22 Mar 2023	Intellectual disability - microarray and sequencing v5.1		Arina Puzriakova Panel version 5.0 has been signed off on 2023-03-22
22 Mar 2023	Intellectual disability - microarray and sequencing v5.0		Arina Puzriakova promoted panel to version 5.0
22 Mar 2023	Intellectual disability - microarray and sequencing v4.127	HIST1H4E	Eleanor Williams commented on gene: HIST1H4E
22 Mar 2023	Intellectual disability - microarray and sequencing v4.126		Arina Puzriakova Panel name changed from Intellectual disability to Intellectual disability - microarray and sequencing List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability - microarray; fragile X and sequencing; R29 to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability - microarray; fragile X and sequencing; Intellectual disability; R29
14 Mar 2023	Intellectual disability - microarray and sequencing v4.125	ATP9A	Eleanor Williams Tag gene-checked was removed from gene: ATP9A.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.125	ATP9A	Eleanor Williams Added comment: Comment on phenotypes: Adding the OMIM phenotype which was added to OMIM in Feb 2023.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.125	ATP9A	Eleanor Williams Phenotypes for gene: ATP9A were changed from Global developmental delay; Intellectual disability; Postnatal microcephaly; Failure to thrive; Abnormality of the abdomen to Global developmental delay; Intellectual disability; Postnatal microcephaly; Failure to thrive; Abnormality of the abdomen; Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
14 Mar 2023	Intellectual disability - microarray and sequencing v4.124	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to 35971781
14 Mar 2023	Intellectual disability - microarray and sequencing v4.124	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to 35971781
14 Mar 2023	Intellectual disability - microarray and sequencing v4.123	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to 35971781
14 Mar 2023	Intellectual disability - microarray and sequencing v4.123	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Deleted their comment
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Deleted their comment
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Deleted their comment
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	TAB2	Achchuthan Shanmugasundram changed review comment from: 4 out of 14 patients identified with heterozygous variants in TAB2 gene in PMID:35971781 were reported with global developmental delay and intellectual disability (ID). Two other patients were reported with motor delay. Although developmental delay was reported in previous studies including the one reviewed by Andrea Haworth below, none of the previous studies reported cases with ID. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and a majority of cases in this study and other previous studies did not report ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.; to: 4 out of 14 patients identified with heterozygous variants in TAB2 gene in PMID:35971781 were reported with global developmental delay and intellectual disability (ID). Two other patients were reported with motor delay. Although developmental delay was reported in previous studies including the one reviewed by Andrea Haworth below, none of the previous studies reported cases with ID.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	TAB2	Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35971781; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
14 Mar 2023	Intellectual disability - microarray and sequencing v4.118	KPTN	Sarah Leigh Phenotypes for gene: KPTN were changed from MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
14 Mar 2023	Intellectual disability - microarray and sequencing v4.117	TBX1	Arina Puzriakova reviewed gene: TBX1: Rating: ; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: ; Mode of inheritance: None
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: GCSH.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118