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Intellectual disability - microarray and sequencing v5.535 GLI3 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: GLI3.
Tag Q2_24_NHS_review tag was added to gene: GLI3.
Intellectual disability - microarray and sequencing v5.531 GAN Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: GAN.
Tag Q2_24_NHS_review tag was added to gene: GAN.
Intellectual disability - microarray and sequencing v5.520 DENND5B Sarah Leigh Tag Q2_24_promote_green tag was added to gene: DENND5B.
Tag Q2_24_NHS_review tag was added to gene: DENND5B.
Intellectual disability - microarray and sequencing v5.519 TBC1D2B Sarah Leigh Tag watchlist was removed from gene: TBC1D2B.
Tag Q2_24_promote_green tag was added to gene: TBC1D2B.
Tag Q2_24_NHS_review tag was added to gene: TBC1D2B.
Intellectual disability - microarray and sequencing v5.499 ZFHX3 Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZFHX3.
Tag Q1_24_NHS_review tag was added to gene: ZFHX3.
Intellectual disability - microarray and sequencing v5.492 ZNFX1 Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZNFX1.
Tag Q1_24_NHS_review tag was added to gene: ZNFX1.
Intellectual disability - microarray and sequencing v5.485 ZFX Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZFX.
Tag Q1_24_NHS_review tag was added to gene: ZFX.
Intellectual disability - microarray and sequencing v5.449 DHX37 Sarah Leigh Tag Q1_24_MOI tag was added to gene: DHX37.
Tag Q1_24_NHS_review tag was added to gene: DHX37.
Intellectual disability - microarray and sequencing v5.446 ABCC9 Sarah Leigh Tag watchlist_moi was removed from gene: ABCC9.
Tag Q1_24_MOI tag was added to gene: ABCC9.
Tag Q1_24_NHS_review tag was added to gene: ABCC9.
Intellectual disability - microarray and sequencing v5.411 KCNA3 Achchuthan Shanmugasundram Tag Q1_24_NHS_review tag was added to gene: KCNA3.
Intellectual disability - microarray and sequencing v5.411 LGI3 Achchuthan Shanmugasundram changed review comment from: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotype in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature; to: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability.

Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotypes in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature
Intellectual disability - microarray and sequencing v5.410 LGI3 Achchuthan Shanmugasundram gene: LGI3 was added
gene: LGI3 was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to 35948005
Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Review for gene: LGI3 was set to GREEN
Added comment: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons.

This gene has been associated with relevant phenotype in OMIM (MIM #620007), but not yet in Gene2Phenotype.
Sources: Literature
Intellectual disability - microarray and sequencing v5.409 KCNA3 Gavin Ryan gene: KCNA3 was added
gene: KCNA3 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review
Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA3 were set to PMID: 37964487
Phenotypes for gene: KCNA3 were set to Intellectual disability; Developmental Delay; Epilepsy
Penetrance for gene: KCNA3 were set to unknown
Review for gene: KCNA3 was set to GREEN
Added comment: Soldovieri et al identified 14 de novo missense variants in KCNA3 gene. The majority of individuals presented with ID, developmental delay, and epilepsy, amongst other features. Functional studies showed loss-of-function effects for some variants and possible gain-of-function for others. One of these variants has also been identified in NHS GMS WGS patient with consistent features.
Sources: Expert Review
Intellectual disability - microarray and sequencing v5.380 COX11 Sarah Leigh gene: COX11 was added
gene: COX11 was added to Intellectual disability - microarray and sequencing. Sources: NHS GMS,Expert Review Amber
Q4_23_promote_green tags were added to gene: COX11.
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551; 38068960
Phenotypes for gene: COX11 were set to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Intellectual disability - microarray and sequencing v5.355 CDK16 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: CDK16.
Tag Q4_23_NHS_review tag was added to gene: CDK16.
Intellectual disability - microarray and sequencing v5.353 ACACA Sarah Leigh Tag Q4_23_NHS_review was removed from gene: ACACA.
Intellectual disability - microarray and sequencing v5.353 ACACA Sarah Leigh gene: ACACA was added
gene: ACACA was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Literature
Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: ACACA.
Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACACA were set to 6114432; 34552920; 36709796
Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency, OMIM: 613933
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.
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.
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.
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.
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.
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.
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.
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.
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'.
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.
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
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.
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
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
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
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
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
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.
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
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
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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.
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.
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.
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.
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.
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.
Intellectual disability - microarray and sequencing v5.25 KDM5A Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: KDM5A.
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.
Intellectual disability - microarray and sequencing v4.118 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.
Intellectual disability - microarray and sequencing v4.118 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.
Intellectual disability - microarray and sequencing v4.118 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.
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.
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.
Intellectual disability - microarray and sequencing v4.118 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.
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.
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.
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.
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.
Intellectual disability - microarray and sequencing v4.54 ISCA-37423-Loss Arina Puzriakova edited their review of Region: ISCA-37423-Loss: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022).; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.54 ISCA-37423-Gain Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.53 CUX2 Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: CUX2.
Intellectual disability - microarray and sequencing v4.53 PRODH Arina Puzriakova Tag Q2_22_rating was removed from gene: PRODH.
Tag Q2_22_expert_review was removed from gene: PRODH.
Tag Q2_22_NHS_review was removed from gene: PRODH.
Intellectual disability - microarray and sequencing v4.53 ZBTB7A Arina Puzriakova Tag Q2_22_rating was removed from gene: ZBTB7A.
Tag Q2_22_NHS_review was removed from gene: ZBTB7A.
Intellectual disability - microarray and sequencing v4.53 THUMPD1 Arina Puzriakova Tag Q2_22_rating was removed from gene: THUMPD1.
Tag Q2_22_NHS_review was removed from gene: THUMPD1.
Intellectual disability - microarray and sequencing v4.53 SNORD118 Arina Puzriakova Tag Q2_22_rating was removed from gene: SNORD118.
Tag Q2_22_NHS_review was removed from gene: SNORD118.
Intellectual disability - microarray and sequencing v4.53 SCAF4 Arina Puzriakova Tag Q2_22_rating was removed from gene: SCAF4.
Tag Q2_22_NHS_review was removed from gene: SCAF4.
Intellectual disability - microarray and sequencing v4.53 NAPB Arina Puzriakova Tag Q2_22_rating was removed from gene: NAPB.
Tag Q2_22_NHS_review was removed from gene: NAPB.
Intellectual disability - microarray and sequencing v4.53 MED13 Arina Puzriakova Tag Q2_22_rating was removed from gene: MED13.
Tag Q2_22_NHS_review was removed from gene: MED13.
Intellectual disability - microarray and sequencing v4.53 CELF2 Arina Puzriakova Tag Q2_22_rating was removed from gene: CELF2.
Tag Q2_22_NHS_review was removed from gene: CELF2.
Intellectual disability - microarray and sequencing v4.53 ZMYM2 Arina Puzriakova Tag Q3_22_rating was removed from gene: ZMYM2.
Tag Q3_22_NHS_review was removed from gene: ZMYM2.
Intellectual disability - microarray and sequencing v4.53 TAF8 Arina Puzriakova Tag Q3_22_rating was removed from gene: TAF8.
Tag Q3_22_NHS_review was removed from gene: TAF8.
Intellectual disability - microarray and sequencing v4.53 STT3A Arina Puzriakova Tag Q3_22_MOI was removed from gene: STT3A.
Tag Q3_22_NHS_review was removed from gene: STT3A.
Intellectual disability - microarray and sequencing v4.53 HK1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: HK1.
Tag Q3_22_NHS_review was removed from gene: HK1.
Intellectual disability - microarray and sequencing v4.53 DOCK8 Arina Puzriakova Tag Q3_22_rating was removed from gene: DOCK8.
Tag Q3_22_MOI was removed from gene: DOCK8.
Tag Q3_22_NHS_review was removed from gene: DOCK8.
Tag Q3_22_expert_review was removed from gene: DOCK8.
Intellectual disability - microarray and sequencing v4.53 CUL3 Arina Puzriakova Tag Q3_22_rating was removed from gene: CUL3.
Tag Q3_22_NHS_review was removed from gene: CUL3.
Intellectual disability - microarray and sequencing v4.53 ATP6V0A1 Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP6V0A1.
Tag Q3_22_NHS_review was removed from gene: ATP6V0A1.
Intellectual disability - microarray and sequencing v4.53 ANK3 Arina Puzriakova Tag Q3_22_rating was removed from gene: ANK3.
Tag Q3_22_MOI was removed from gene: ANK3.
Tag Q3_22_NHS_review was removed from gene: ANK3.
Intellectual disability - microarray and sequencing v4.53 RAP1GDS1 Arina Puzriakova edited their review of gene: RAP1GDS1: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
Intellectual disability - microarray and sequencing v4.53 SCAF4 Arina Puzriakova edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.53 NAPB Arina Puzriakova edited their review of gene: NAPB: 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
Intellectual disability - microarray and sequencing v4.53 KDM5C Arina Puzriakova commented on gene: KDM5C: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 HSPD1 Arina Puzriakova commented on gene: HSPD1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 DHDDS Arina Puzriakova commented on gene: DHDDS: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 CELF2 Arina Puzriakova edited their review of gene: CELF2: 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
Intellectual disability - microarray and sequencing v4.53 BSCL2 Arina Puzriakova commented on gene: BSCL2: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 ARHGEF9 Arina Puzriakova commented on gene: ARHGEF9: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 AP1S2 Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 AFF3 Arina Puzriakova edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.53 ACER3 Arina Puzriakova commented on gene: ACER3: 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.
Intellectual disability - microarray and sequencing v4.53 WNK3 Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 TAF8 Arina Puzriakova edited their review of gene: TAF8: 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
Intellectual disability - microarray and sequencing v4.53 STT3A Arina Puzriakova commented on gene: STT3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.53 POLRMT Arina Puzriakova edited their review of gene: POLRMT: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.53 OGDHL Arina Puzriakova edited their review of gene: OGDHL: 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
Intellectual disability - microarray and sequencing v4.53 NSRP1 Arina Puzriakova edited their review of gene: NSRP1: 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
Intellectual disability - microarray and sequencing v4.53 HMGB1 Arina Puzriakova edited their review of gene: HMGB1: 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
Intellectual disability - microarray and sequencing v4.53 EDEM3 Arina Puzriakova edited their review of gene: EDEM3: 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
Intellectual disability - microarray and sequencing v4.53 CUL3 Arina Puzriakova edited their review of gene: CUL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v4.53 BLOC1S1 Arina Puzriakova edited their review of gene: BLOC1S1: 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
Intellectual disability - microarray and sequencing v4.53 ATG7 Arina Puzriakova edited their review of gene: ATG7: 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
Intellectual disability - microarray and sequencing v4.53 ALKBH8 Arina Puzriakova commented on gene: ALKBH8: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.52 ZMYM2 Arina Puzriakova Source NHS GMS was added to ZMYM2.
Source Expert Review Green was added to ZMYM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ZC4H2 Arina Puzriakova Source NHS GMS was added to ZC4H2.
Mode of inheritance for gene ZC4H2 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)
Intellectual disability - microarray and sequencing v4.52 ZBTB7A Arina Puzriakova Source NHS GMS was added to ZBTB7A.
Source Expert Review Green was added to ZBTB7A.
Mode of inheritance for gene ZBTB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 WNK3 Arina Puzriakova Source NHS GMS was added to WNK3.
Source Expert Review Green was added to WNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 TPP2 Arina Puzriakova Source NHS GMS was added to TPP2.
Source Expert Review Green was added to TPP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 TMEM63C Arina Puzriakova Source NHS GMS was added to TMEM63C.
Source Expert Review Green was added to TMEM63C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 TIAM1 Arina Puzriakova Source NHS GMS was added to TIAM1.
Source Expert Review Green was added to TIAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 THUMPD1 Arina Puzriakova Source NHS GMS was added to THUMPD1.
Source Expert Review Green was added to THUMPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 TAF8 Arina Puzriakova Source NHS GMS was added to TAF8.
Source Expert Review Green was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 STT3A Arina Puzriakova Source NHS GMS was added to STT3A.
Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 SRRM2 Arina Puzriakova Source NHS GMS was added to SRRM2.
Source Expert Review Green was added to SRRM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 SPRED2 Arina Puzriakova Source NHS GMS was added to SPRED2.
Source Expert Review Green was added to SPRED2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 SPATA5L1 Arina Puzriakova Source NHS GMS was added to SPATA5L1.
Source Expert Review Green was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 SNORD118 Arina Puzriakova Source NHS GMS was added to SNORD118.
Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 SLC38A3 Arina Puzriakova Source NHS GMS was added to SLC38A3.
Source Expert Review Green was added to SLC38A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 SLC12A5 Arina Puzriakova Source NHS GMS was added to SLC12A5.
Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 SCAF4 Arina Puzriakova Source NHS GMS was added to SCAF4.
Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 RAB11A Arina Puzriakova Source NHS GMS was added to RAB11A.
Source Expert Review Green was added to RAB11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 PRPF8 Arina Puzriakova Source NHS GMS was added to PRPF8.
Source Expert Review Green was added to PRPF8.
Mode of inheritance for gene PRPF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 PRODH Arina Puzriakova Source Expert Review Amber was added to PRODH.
Source NHS GMS was added to PRODH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v4.52 PRDM13 Arina Puzriakova Source NHS GMS was added to PRDM13.
Source Expert Review Green was added to PRDM13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 PHF14 Arina Puzriakova Source NHS GMS was added to PHF14.
Intellectual disability - microarray and sequencing v4.52 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 PDZD8 Arina Puzriakova Source NHS GMS was added to PDZD8.
Source Expert Review Green was added to PDZD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 OGDHL Arina Puzriakova Source NHS GMS was added to OGDHL.
Source Expert Review Green was added to OGDHL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 NSRP1 Arina Puzriakova Source NHS GMS was added to NSRP1.
Source Expert Review Green was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 NRCAM Arina Puzriakova Source NHS GMS was added to NRCAM.
Source Expert Review Green was added to NRCAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 MED13 Arina Puzriakova Source NHS GMS was added to MED13.
Source Expert Review Green was added to MED13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 KDM5C Arina Puzriakova Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C 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)
Intellectual disability - microarray and sequencing v4.52 HSPD1 Arina Puzriakova Source NHS GMS was added to HSPD1.
Mode of inheritance for gene HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 HMGB1 Arina Puzriakova Source NHS GMS was added to HMGB1.
Source Expert Review Green was added to HMGB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 HK1 Arina Puzriakova Source NHS GMS was added to HK1.
Mode of inheritance for gene HK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v4.52 GLRA2 Arina Puzriakova Source NHS GMS was added to GLRA2.
Source Expert Review Green was added to GLRA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 FBXW7 Arina Puzriakova Source NHS GMS was added to FBXW7.
Source Expert Review Green was added to FBXW7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 FBXO28 Arina Puzriakova Source NHS GMS was added to FBXO28.
Source Expert Review Green was added to FBXO28.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 EMC1 Arina Puzriakova Source NHS GMS was added to EMC1.
Mode of inheritance for gene EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 EDEM3 Arina Puzriakova Source NHS GMS was added to EDEM3.
Source Expert Review Green was added to EDEM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 DTYMK Arina Puzriakova Source NHS GMS was added to DTYMK.
Source Expert Review Green was added to DTYMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 DROSHA Arina Puzriakova Source NHS GMS was added to DROSHA.
Intellectual disability - microarray and sequencing v4.52 DOCK8 Arina Puzriakova Source Expert Review Amber was added to DOCK8.
Source NHS GMS was added to DOCK8.
Mode of inheritance for gene DOCK8 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v4.52 DHDDS Arina Puzriakova Source NHS GMS was added to DHDDS.
Mode of inheritance for gene DHDDS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v4.52 CUL3 Arina Puzriakova Source NHS GMS was added to CUL3.
Source Expert Review Green was added to CUL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 COG5 Arina Puzriakova Source NHS GMS was added to COG5.
Mode of inheritance for gene COG5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 CHKA Arina Puzriakova Source NHS GMS was added to CHKA.
Source Expert Review Green was added to CHKA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 CELF2 Arina Puzriakova Source NHS GMS was added to CELF2.
Source Expert Review Green was added to CELF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 CCDC32 Arina Puzriakova Source NHS GMS was added to CCDC32.
Source Expert Review Green was added to CCDC32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 CACNA2D1 Arina Puzriakova Source NHS GMS was added to CACNA2D1.
Source Expert Review Green was added to CACNA2D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 CACNA1A Arina Puzriakova Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 BSCL2 Arina Puzriakova Source NHS GMS was added to BSCL2.
Mode of inheritance for gene BSCL2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 BLOC1S1 Arina Puzriakova Source NHS GMS was added to BLOC1S1.
Source Expert Review Green was added to BLOC1S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ATP6V0A1 Arina Puzriakova Source NHS GMS was added to ATP6V0A1.
Source Expert Review Green was added to ATP6V0A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ATP2B1 Arina Puzriakova Source NHS GMS was added to ATP2B1.
Source Expert Review Green was added to ATP2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ATG7 Arina Puzriakova Source NHS GMS was added to ATG7.
Source Expert Review Green was added to ATG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ARHGEF9 Arina Puzriakova Source NHS GMS was added to ARHGEF9.
Mode of inheritance for gene ARHGEF9 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)
Intellectual disability - microarray and sequencing v4.52 AP1S2 Arina Puzriakova Source NHS GMS was added to AP1S2.
Mode of inheritance for gene AP1S2 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)
Intellectual disability - microarray and sequencing v4.52 ANK3 Arina Puzriakova Source NHS GMS was added to ANK3.
Source Expert Review Green was added to ANK3.
Mode of inheritance for gene ANK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ALKBH8 Arina Puzriakova Source NHS GMS was added to ALKBH8.
Source Expert Review Green was added to ALKBH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 AFF3 Arina Puzriakova Source NHS GMS was added to AFF3.
Source Expert Review Green was added to AFF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ADD1 Arina Puzriakova Source NHS GMS was added to ADD1.
Source Expert Review Green was added to ADD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.52 ACO2 Arina Puzriakova Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v4.52 ACER3 Arina Puzriakova Source NHS GMS was added to ACER3.
Source Expert Review Green was added to ACER3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v4.51 KDM2B Mike Spiller gene: KDM2B was added
gene: KDM2B was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to PMID: 36322151; 35128353; 35710456
Review for gene: KDM2B was set to GREEN
Added comment: van Jaarsveld et al 2022 PMID: 36322151

Majority of variants are missense, strong evidence for hotspot in CXXC domain.(7 different de Novo missenses + 1 de Novo in frame del. Same inframe del also found de novo in NHS GMS patient. All absent from gnomAD, region highly constrained).

Also 3 LOF SNVs and 3 patients with deletions including this gene, although not all are de novo and most also have potential alternate causes.

All have developmental delay. Almost all have intellectual disability ranging from mild to moderate, speech delay common..7 with cardiac abnormalities, 4 with kidney abnormalities.

Also 2 variants published in this region in PMID: 35710456, 35904121.

KDM2B methylation episignature recorded. CXXC variants show strong clustering, highly distinct from control dataset. LOF variants (including dels) also reported to show distinct episignature from controls, and from CXXC variants. While the data supports a KDM2B LOF episignature, this is not as clear, and may not be as specific, as the CXXC signature.

Mouse model also supports importance of CXXC domain, with mice heterozygous for CXXC-deleted KDM2B showing neurological defects (PMID: 35128353).

Evidence very strong for CXXC missenses less clear for haploinsufficiency.

Overall sufficient evidence from cases and episignature evidence to include as green for ID.
Sources: Literature
Intellectual disability - microarray and sequencing v4.33 ZNF292 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: ZNF292.
Tag Q1_23_NHS_review tag was added to gene: ZNF292.
Intellectual disability - microarray and sequencing v4.32 PAX6 Sarah Leigh Tag Q1_23_demote_red tag was added to gene: PAX6.
Tag Q1_23_NHS_review tag was added to gene: PAX6.
Intellectual disability - microarray and sequencing v4.9 SUFU Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update under a MONOALLELIC inheritance pattern only, unless the NHS GMS working group disagree and feel the MOI should include both mono- and biallelic variants based on the current evidence.
Intellectual disability - microarray and sequencing v3.1743 ROR2 Arina Puzriakova Tag Q4_22_demote_red tag was added to gene: ROR2.
Tag Q4_22_NHS_review tag was added to gene: ROR2.
Intellectual disability - microarray and sequencing v3.1729 HK1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: HK1.
Tag Q3_22_NHS_review tag was added to gene: HK1.
Intellectual disability - microarray and sequencing v3.1716 ANK3 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ANK3.
Tag Q3_22_rating tag was added to gene: ANK3.
Tag Q3_22_NHS_review tag was added to gene: ANK3.
Intellectual disability - microarray and sequencing v3.1711 DOCK8 Sarah Leigh Tag Q3_22_rating tag was added to gene: DOCK8.
Tag Q3_22_MOI tag was added to gene: DOCK8.
Tag Q3_22_NHS_review tag was added to gene: DOCK8.
Tag Q3_22_expert_review tag was added to gene: DOCK8.
Intellectual disability - microarray and sequencing v3.1660 STT3A Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: STT3A.
Intellectual disability - microarray and sequencing v3.1656 TAF8 Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: TAF8.
Intellectual disability - microarray and sequencing v3.1638 POLRMT Arina Puzriakova gene: POLRMT was added
gene: POLRMT was added to Intellectual disability. Sources: NHS GMS,Expert Review Amber
Q3_22_rating tags were added to gene: POLRMT.
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLRMT were set to 24386581; 33602924
Phenotypes for gene: POLRMT were set to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Intellectual disability - microarray and sequencing v3.1609 ATP6V0A1 Sarah Leigh Tag Q3_22_rating tag was added to gene: ATP6V0A1.
Tag Q3_22_NHS_review tag was added to gene: ATP6V0A1.
Intellectual disability - microarray and sequencing v3.1600 ZMYM2 Sarah Leigh Tag Q3_22_rating tag was added to gene: ZMYM2.
Tag Q3_22_NHS_review tag was added to gene: ZMYM2.
Intellectual disability - microarray and sequencing v3.1599 CUL3 Sarah Leigh Tag Q3_22_rating tag was added to gene: CUL3.
Tag Q3_22_NHS_review tag was added to gene: CUL3.
Intellectual disability - microarray and sequencing v3.1590 MED13 Catherine Snow Tag Q2_22_rating tag was added to gene: MED13.
Tag Q2_22_NHS_review tag was added to gene: MED13.
Intellectual disability - microarray and sequencing v3.1582 SNORD118 Sarah Leigh Tag Q2_22_rating tag was added to gene: SNORD118.
Tag Q2_22_NHS_review tag was added to gene: SNORD118.
Intellectual disability - microarray and sequencing v3.1581 SCAF4 Sarah Leigh Tag watchlist was removed from gene: SCAF4.
Tag Q2_22_rating tag was added to gene: SCAF4.
Tag Q2_22_NHS_review tag was added to gene: SCAF4.
Intellectual disability - microarray and sequencing v3.1578 PRODH Sarah Leigh Tag Q2_22_NHS_review tag was added to gene: PRODH.
Intellectual disability - microarray and sequencing v3.1574 THUMPD1 Sarah Leigh Tag Q2_22_rating tag was added to gene: THUMPD1.
Tag Q2_22_NHS_review tag was added to gene: THUMPD1.
Intellectual disability - microarray and sequencing v3.1571 ZBTB7A Sarah Leigh Tag Q2_22_rating tag was added to gene: ZBTB7A.
Tag Q2_22_NHS_review tag was added to gene: ZBTB7A.
Intellectual disability - microarray and sequencing v3.1570 CELF2 Arina Puzriakova Tag Q2_22_rating tag was added to gene: CELF2.
Tag Q2_22_NHS_review tag was added to gene: CELF2.
Intellectual disability - microarray and sequencing v3.1541 NAPB Arina Puzriakova gene: NAPB was added
gene: NAPB was added to Intellectual disability. Sources: Expert Review Amber,NHS GMS
Q2_22_rating, Q2_22_NHS_review tags were added to gene: NAPB.
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 28097321; 33189936; 26235277; 21040848
Phenotypes for gene: NAPB were set to Early infantile epileptic encephalopathy
Penetrance for gene: NAPB were set to unknown
Intellectual disability - microarray and sequencing v3.1519 FAR1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: FAR1.
Intellectual disability - microarray and sequencing v3.1519 SMARCA5 Ivone Leong Tag Q2_21_rating was removed from gene: SMARCA5.
Tag Q2_21_NHS_review was removed from gene: SMARCA5.
Intellectual disability - microarray and sequencing v3.1519 HNMT Ivone Leong Tag Q3_21_rating was removed from gene: HNMT.
Tag Q3_21_NHS_review was removed from gene: HNMT.
Intellectual disability - microarray and sequencing v3.1519 ERBB4 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB4.
Tag Q2_21_NHS_review was removed from gene: ERBB4.
Intellectual disability - microarray and sequencing v3.1519 UFSP2 Sarah Leigh commented on gene: UFSP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 TMEM222 Sarah Leigh commented on gene: TMEM222: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 SPTBN1 Sarah Leigh commented on gene: SPTBN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 SNIP1 Sarah Leigh commented on gene: SNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 SCYL1 Sarah Leigh commented on gene: SCYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 PCDHGC4 Sarah Leigh commented on gene: PCDHGC4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 CEP85L Sarah Leigh commented on gene: CEP85L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 ATP9A Sarah Leigh commented on gene: ATP9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 AGO1 Sarah Leigh commented on gene: AGO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 POLR3B Ivone Leong Source NHS GMS was added to POLR3B.
Mode of inheritance for gene POLR3B was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability - microarray and sequencing v3.1519 PHF6 Ivone Leong Source NHS GMS was added to PHF6.
Mode of inheritance for gene PHF6 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)
Intellectual disability - microarray and sequencing v3.1519 MED12 Ivone Leong Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 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)
Intellectual disability - microarray and sequencing v3.1519 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Mode of inheritance for gene HCCS 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)
Intellectual disability - microarray and sequencing v3.1519 GRIK2 Ivone Leong Source NHS GMS was added to GRIK2.
Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1519 CLPB Ivone Leong Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1519 AFG3L2 Ivone Leong Source NHS GMS was added to AFG3L2.
Intellectual disability - microarray and sequencing v3.1515 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Intellectual disability - microarray and sequencing v3.1515 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Intellectual disability - microarray and sequencing v3.1515 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability - microarray and sequencing v3.1515 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability - microarray and sequencing v3.1515 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability - microarray and sequencing v3.1515 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Intellectual disability - microarray and sequencing v3.1515 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source NHS GMS was added to STR: ATXN7_CAG.
Intellectual disability - microarray and sequencing v3.1515 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Intellectual disability - microarray and sequencing v3.1515 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source NHS GMS was added to STR: ATXN2_CAG.
Intellectual disability - microarray and sequencing v3.1515 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Intellectual disability - microarray and sequencing v3.1515 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN1_CAG.
Intellectual disability - microarray and sequencing v3.1510 CACNB4 Sarah Leigh commented on gene: CACNB4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 CNOT3 Sarah Leigh commented on gene: CNOT3: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 ZNF335 Sarah Leigh commented on gene: ZNF335: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 MFSD2A Sarah Leigh commented on gene: MFSD2A: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 MAPRE2 Sarah Leigh commented on gene: MAPRE2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 SCAMP5 Sarah Leigh commented on gene: SCAMP5: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 KAT8 Sarah Leigh commented on gene: KAT8: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 GPC4 Sarah Leigh commented on gene: GPC4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 KDM6B Sarah Leigh commented on gene: KDM6B: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 CDK19 Sarah Leigh commented on gene: CDK19: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 EXT2 Sarah Leigh commented on gene: EXT2: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 TOR1A Sarah Leigh commented on gene: TOR1A: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 LMBRD2 Sarah Leigh commented on gene: LMBRD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ALG14 Sarah Leigh commented on gene: ALG14: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Intellectual disability - microarray and sequencing v3.1510 SLC12A6 Sarah Leigh commented on gene: SLC12A6: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 COG4 Sarah Leigh commented on gene: COG4: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 SCN8A Sarah Leigh commented on gene: SCN8A: Just 2 families reported with possible AR inheritance: v rare - all het parents seem to have features so prob ok to keep as monoallelic only (source NHS Genomic Medicine Service).
Intellectual disability - microarray and sequencing v3.1510 SCN8A Sarah Leigh commented on gene: SCN8A: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Intellectual disability - microarray and sequencing v3.1510 AGO2 Sarah Leigh commented on gene: AGO2: Green rating is for monoallelic MOI only, many cases reported with speech delay and variable ID (source NHS Genomic Medicine Service).
Intellectual disability - microarray and sequencing v3.1510 FA2H Sarah Leigh commented on gene: FA2H: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 MGP Sarah Leigh commented on gene: MGP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 LGI4 Sarah Leigh commented on gene: LGI4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ATL1 Sarah Leigh commented on gene: ATL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ANKH Sarah Leigh commented on gene: ANKH: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 LMNB1 Sarah Leigh commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 TFE3 Sarah Leigh commented on gene: TFE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 PIGQ Sarah Leigh commented on gene: PIGQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SETD1A Sarah Leigh commented on gene: SETD1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 CDH2 Sarah Leigh commented on gene: CDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 PUM1 Sarah Leigh commented on gene: PUM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 RALGAPA1 Sarah Leigh commented on gene: RALGAPA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 RARS Sarah Leigh commented on gene: RARS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SLC5A6 Sarah Leigh commented on gene: SLC5A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SNX27 Sarah Leigh commented on gene: SNX27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 TTC5 Sarah Leigh commented on gene: TTC5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 TET3 Sarah Leigh commented on gene: TET3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SUZ12 Sarah Leigh commented on gene: SUZ12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SOX6 Sarah Leigh commented on gene: SOX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SLC1A1 Sarah Leigh commented on gene: SLC1A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SFXN4 Sarah Leigh commented on gene: SFXN4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SBF1 Sarah Leigh commented on gene: SBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 SARS2 Sarah Leigh commented on gene: SARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 RSRC1 Sarah Leigh commented on gene: RSRC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 PIGS Sarah Leigh commented on gene: PIGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 PIGK Sarah Leigh commented on gene: PIGK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 OXR1 Sarah Leigh commented on gene: OXR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 NRROS Sarah Leigh commented on gene: NRROS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 NOVA2 Sarah Leigh commented on gene: NOVA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 MTHFS Sarah Leigh commented on gene: MTHFS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 EARS2 Sarah Leigh commented on gene: EARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 CNTNAP1 Sarah Leigh commented on gene: CNTNAP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 B9D2 Sarah Leigh commented on gene: B9D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ADARB1 Sarah Leigh commented on gene: ADARB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 RNF113A Sarah Leigh commented on gene: RNF113A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 GAD1 Sarah Leigh commented on gene: GAD1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ALG9 Sarah Leigh commented on gene: ALG9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 CDK19 Sarah Leigh commented on gene: CDK19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 AHCY Sarah Leigh commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 PIGP Sarah Leigh commented on gene: PIGP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 RNF13 Sarah Leigh commented on gene: RNF13: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 C2CD3 Sarah Leigh commented on gene: C2CD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ATP1A2 Sarah Leigh commented on gene: ATP1A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ABAT Sarah Leigh commented on gene: ABAT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1510 ADAM22 Sarah Leigh commented on gene: ADAM22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1509 CACNB4 Arina Puzriakova Source NHS GMS was added to CACNB4.
Intellectual disability - microarray and sequencing v3.1509 CNOT3 Arina Puzriakova Source NHS GMS was added to CNOT3.
Intellectual disability - microarray and sequencing v3.1509 ZNF335 Arina Puzriakova Source NHS GMS was added to ZNF335.
Intellectual disability - microarray and sequencing v3.1509 MFSD2A Arina Puzriakova Source NHS GMS was added to MFSD2A.
Intellectual disability - microarray and sequencing v3.1509 MAPRE2 Arina Puzriakova Source NHS GMS was added to MAPRE2.
Intellectual disability - microarray and sequencing v3.1509 SCN1B Arina Puzriakova Source NHS GMS was added to SCN1B.
Intellectual disability - microarray and sequencing v3.1509 SCAMP5 Arina Puzriakova Source NHS GMS was added to SCAMP5.
Intellectual disability - microarray and sequencing v3.1509 KAT8 Arina Puzriakova Source NHS GMS was added to KAT8.
Intellectual disability - microarray and sequencing v3.1509 GPC4 Arina Puzriakova Source NHS GMS was added to GPC4.
Intellectual disability - microarray and sequencing v3.1509 KDM6B Arina Puzriakova Source NHS GMS was added to KDM6B.
Intellectual disability - microarray and sequencing v3.1509 CDK19 Arina Puzriakova Source NHS GMS was added to CDK19.
Intellectual disability - microarray and sequencing v3.1509 EXT2 Arina Puzriakova Source NHS GMS was added to EXT2.
Intellectual disability - microarray and sequencing v3.1509 TOR1A Arina Puzriakova Source NHS GMS was added to TOR1A.
Intellectual disability - microarray and sequencing v3.1227 HNMT Ivone Leong Tag watchlist was removed from gene: HNMT.
Tag Q3_21_rating tag was added to gene: HNMT.
Tag Q3_21_NHS_review tag was added to gene: HNMT.
Intellectual disability - microarray and sequencing v3.1195 CEP85L Rachel Challis gene: CEP85L was added
gene: CEP85L was added to Intellectual disability. Sources: NHS GMS
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097629; 32097630
Phenotypes for gene: CEP85L were set to Intellectual disability; epilepsy, lissencephaly
Penetrance for gene: CEP85L were set to unknown
Review for gene: CEP85L was set to GREEN
gene: CEP85L was marked as current diagnostic
Added comment: Recommend adding as Green gene to GMS - R29 Intellectual disability panel.

Monoallelic missense and loss of function variants in CEP85L are associated with Lissencephaly (OMIM 618873). Over 10 unrelated families have been described with de novo and inherited rare variants in CEP85L. Functional work in cell lines and knockdown of Cep85l in mice confirms the role of CEP85L in neuronal migration.
PMID: 32097629
PMID: 32097630
Sources: NHS GMS
Intellectual disability - microarray and sequencing v3.1164 CUX2 Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: CUX2.
Intellectual disability - microarray and sequencing v3.1117 SMARCA5 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SMARCA5.
Tag Q2_21_NHS_review tag was added to gene: SMARCA5.
Intellectual disability - microarray and sequencing v3.1117 SMARCA5 Arina Puzriakova Added comment: Comment on list classification: New gene added and reviewed Green by Julia Baptista (RD&E NHS FT). SMARCA5 should be promoted to Green at the next GMS panel update.

Variants have been associated with a variable neurodevelopmental phenotype including predominantly mild DD, short stature, and microcephaly (PMID:33980485). Regarding cognition, four probands had mild ID and one had severe ID. Although relatively mild in most patients, the number of unrelated families presenting ID is sufficient for a Green rating and inclusion on this panel should increase the likelihood of detecting cases.
Intellectual disability - microarray and sequencing v3.963 ERBB4 Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: ERBB4.
Intellectual disability - microarray and sequencing v3.483 PIGP Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.482 PUM1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.481 RALGAPA1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.480 RARS Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.479 RNF113A Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.478 RNF13 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.477 GAD1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.476 CEP55 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.475 CTU2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.474 ALG9 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.473 EXT2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.472 PTRHD1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.471 TRAPPC4 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.470 UGP2 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.469 CXorf56 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.468 KAT8 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.467 SLC5A6 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.466 SNX27 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.465 WNT1 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.464 PIGK Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Intellectual disability - microarray and sequencing v3.459 ALG14 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Intellectual disability - microarray and sequencing v3.114 SIX1 Sarah Leigh Publications for gene: SIX1 were set to 25529582; Version 12 ukgtn.nhs.uk
Intellectual disability - microarray and sequencing v2.530 TUBA8 Rebecca Foulger Added comment: Comment on list classification: Demoted from Green to Amber based on re-review of evidence. Demotion agreed by Clinical Fellow Helen Brittain.

TUBA8 was originally rated Green on the panel because TUBA8 is a confirmed DD-G2P gene for 'POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA' (the former name for Cortical dysplasia, complex, with other brain malformations 8, 613180) and TUBA8 is on the UKGTN 43 gene panel for brain malformations:
https://ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/brain-malformation-disorders-cortical-43-gene-panel-886/.

However, the reported evidence comes from one 2009 paper (PMID:19896110) with 4 literature cases coming from 2 consaguineous families (1 variant); at least PMID:25008804 questions whether the families are related. A 2017 paper identifies an additional VUS (compound heterozygous) in a chinese EE patient (PMID:29588952).

Anna de Burca confirmed that there are lots of cases with CNVs involving TUBA8 in DECIPHER but there are only two cases with SNVs in the gene. One of them is classified as unknown pathogenicity, the other likely benign.

I contacted Usha Kini at Oxford, and also the Leeds and Cardiff genetic testing groups (as recommended by Usha) since they all offer cortical malformation panels. All three confirmed (pers. comm. via email) that they have no further cases for TUBA8.

The literature evidence and communications from Oxford, Leeds and Cardiff all support demotion of TUBA8 to Amber rating: The phenotype is still appropriate for the panel but insufficient cases for diagnostic rating.

Added 'watchlist' tag to look out for further cases.
Intellectual disability - microarray and sequencing v2.468 NHS Louise Daugherty Source Victorian Clinical Genetics Services was added to NHS.
Intellectual disability - microarray and sequencing v2.458 KDM1A Louise Daugherty edited their review of gene: KDM1A: Added comment: Recommendation that this gene should be Green. Three patients https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902791/, there is functional characterisation of the three described mutations https://www.ncbi.nlm.nih.gov/pubmed/27094131?dopt=Abstract and the patients seem to share a similar phenotype, which recapitulates features of other deleterious mutations in better-characterised lysine demethylase and chromatin remodelling genes. There is also a recurrent de novo variant p.Tyr831Cys which has been reported in two separate "autism spectrum" patients in large cohort studies. The gene is also extensively constrained against both missense and LOF variation in humans http://exac.broadinstitute.org/gene/ENSG00000004487. I think what's been reported so far is probably robust enough to use the gene clinically.Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN
Intellectual disability - microarray and sequencing v2.455 PHIP Louise Daugherty edited their review of gene: PHIP: Added comment: Recommendation that this gene should be Green based on recent publication PMID:29209020, more than 20 unrelated cases Pers comm. Ian Berry (NHS Leeds Genetics Laboratory); Changed rating: GREEN; Changed publications: 29209020, 23033978, 27900362; Changed phenotypes: Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing NHS BRIDGE consortium edited their review of NHS
Intellectual disability - microarray and sequencing NHS BRIDGE consortium edited their review of NHS
Intellectual disability - microarray and sequencing NHS BRIDGE consortium reviewed NHS