Activity
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| Fetal anomalies v4.192 | CFAP45 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP45. Tag Q3_24_NHS_review was removed from gene: CFAP45. |
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| Fetal anomalies v4.192 | CEP85L |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CEP85L. Tag Q3_23_NHS_review was removed from gene: CEP85L. |
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| Fetal anomalies v4.192 | CCDC22 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC22. Tag Q3_24_NHS_review was removed from gene: CCDC22. |
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| Fetal anomalies v4.192 | C2orf69 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C2orf69. Tag Q3_24_NHS_review was removed from gene: C2orf69. |
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| Fetal anomalies v4.192 | C12orf57 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C12orf57. Tag Q3_24_NHS_review was removed from gene: C12orf57. |
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| Fetal anomalies v4.192 | BRD4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRD4. Tag Q3_24_NHS_review was removed from gene: BRD4. |
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| Fetal anomalies v4.192 | BRCA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRCA1. Tag Q3_24_NHS_review was removed from gene: BRCA1. |
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| Fetal anomalies v4.192 | ATN1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATN1. Tag Q3_24_NHS_review was removed from gene: ATN1. |
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| Fetal anomalies v4.192 | ATAD1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATAD1. Tag Q3_24_NHS_review was removed from gene: ATAD1. |
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| Fetal anomalies v4.192 | ARL3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARL3. Tag Q3_24_NHS_review was removed from gene: ARL3. |
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| Fetal anomalies v4.192 | ARID2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARID2. Tag Q3_24_NHS_review was removed from gene: ARID2. |
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| Fetal anomalies v4.192 | APC2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: APC2. Tag Q3_24_NHS_review was removed from gene: APC2. |
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| Fetal anomalies v4.192 | AP4S1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4S1. Tag Q3_24_NHS_review was removed from gene: AP4S1. |
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| Fetal anomalies v4.192 | AP4B1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4B1. Tag Q3_24_NHS_review was removed from gene: AP4B1. |
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| Fetal anomalies v4.192 | ANGPT2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ANGPT2. Tag Q3_24_NHS_review was removed from gene: ANGPT2. |
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| Fetal anomalies v4.192 | ALPK3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALPK3. Tag Q3_24_NHS_review was removed from gene: ALPK3. |
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| Fetal anomalies v4.192 | ALG14 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALG14. Tag Q3_24_NHS_review was removed from gene: ALG14. |
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| Fetal anomalies v4.192 | ALDH1A2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALDH1A2. Tag Q3_24_NHS_review was removed from gene: ALDH1A2. |
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| Fetal anomalies v4.192 | AFF3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AFF3. Tag Q3_24_NHS_review was removed from gene: AFF3. |
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| Fetal anomalies v4.192 | ADCY6 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ADCY6. Tag Q3_24_NHS_review was removed from gene: ADCY6. |
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| Fetal anomalies v4.192 | ACVRL1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ACVRL1. Tag Q3_24_NHS_review was removed from gene: ACVRL1. |
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| Fetal anomalies v4.192 | ZNF699 | Achchuthan Shanmugasundram edited their review of gene: ZNF699: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ZNF526 | Achchuthan Shanmugasundram edited their review of gene: ZNF526: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ZNF462 | Achchuthan Shanmugasundram edited their review of gene: ZNF462: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ZNF335 | Achchuthan Shanmugasundram edited their review of gene: ZNF335: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ZMYM2 | Achchuthan Shanmugasundram edited their review of gene: ZMYM2: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ZMIZ1 | Achchuthan Shanmugasundram edited their review of gene: ZMIZ1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | WWOX | Achchuthan Shanmugasundram edited their review of gene: WWOX: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | WDR4 | Achchuthan Shanmugasundram edited their review of gene: WDR4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | WDR37 | Achchuthan Shanmugasundram edited their review of gene: WDR37: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | VPS4A | Achchuthan Shanmugasundram commented on gene: VPS4A: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | UBR7 | Achchuthan Shanmugasundram edited their review of gene: UBR7: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | UBA2 | Achchuthan Shanmugasundram edited their review of gene: UBA2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TSEN15 | Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TRRAP | Achchuthan Shanmugasundram edited their review of gene: TRRAP: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TRIM71 | Achchuthan Shanmugasundram edited their review of gene: TRIM71: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TP73 | Achchuthan Shanmugasundram edited their review of gene: TP73: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TOR1AIP1 | Achchuthan Shanmugasundram edited their review of gene: TOR1AIP1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TMTC3 | Achchuthan Shanmugasundram edited their review of gene: TMTC3: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TMEM218 | Achchuthan Shanmugasundram edited their review of gene: TMEM218: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | TLL1 | Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | THOC2 | Achchuthan Shanmugasundram commented on gene: THOC2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | STT3A | Achchuthan Shanmugasundram edited their review of gene: STT3A: 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; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SPTB | Achchuthan Shanmugasundram edited their review of gene: SPTB: 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; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SPINT2 | Achchuthan Shanmugasundram edited their review of gene: SPINT2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SPEN | Achchuthan Shanmugasundram edited their review of gene: SPEN: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SOX11 | Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SMARCD1 | Achchuthan Shanmugasundram edited their review of gene: SMARCD1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SMAD2 | Achchuthan Shanmugasundram edited their review of gene: SMAD2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SKIV2L | Achchuthan Shanmugasundram edited their review of gene: SKIV2L: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SIN3A | Achchuthan Shanmugasundram edited their review of gene: SIN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SHMT2 | Achchuthan Shanmugasundram edited their review of gene: SHMT2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SEMA3A | Achchuthan Shanmugasundram edited their review of gene: SEMA3A: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SCN5A | Achchuthan Shanmugasundram commented on gene: SCN5A: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SCN3A | Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | SCAF4 | Achchuthan Shanmugasundram edited their review of gene: SCAF4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RPL15 | Achchuthan Shanmugasundram edited their review of gene: RPL15: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RNU12 | Achchuthan Shanmugasundram edited their review of gene: RNU12: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RNF125 | Achchuthan Shanmugasundram edited their review of gene: RNF125: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RNF113A | Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RLIM | Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The rating of this gene has been updated to green and the mode of inheritance 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.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RBP4 | Achchuthan Shanmugasundram commented on gene: RBP4: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RAD51 | Achchuthan Shanmugasundram edited their review of gene: RAD51: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | RAD50 | Achchuthan Shanmugasundram edited their review of gene: RAD50: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PXDN | Achchuthan Shanmugasundram edited their review of gene: PXDN: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PTPN23 | Achchuthan Shanmugasundram edited their review of gene: PTPN23: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PRR12 | Achchuthan Shanmugasundram edited their review of gene: PRR12: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PRF1 | Achchuthan Shanmugasundram edited their review of gene: PRF1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PPP3CA | Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PPP2R3C | Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PPP2CA | Achchuthan Shanmugasundram edited their review of gene: PPP2CA: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PPIL1 | Achchuthan Shanmugasundram edited their review of gene: PPIL1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PLPBP | Achchuthan Shanmugasundram edited their review of gene: PLPBP: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PLEC | Achchuthan Shanmugasundram edited their review of gene: PLEC: 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; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PIGH | Achchuthan Shanmugasundram edited their review of gene: PIGH: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PIDD1 | Achchuthan Shanmugasundram edited their review of gene: PIDD1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PHF21A | Achchuthan Shanmugasundram edited their review of gene: PHF21A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PGAP1 | Achchuthan Shanmugasundram edited their review of gene: PGAP1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PDE3A | Achchuthan Shanmugasundram edited their review of gene: PDE3A: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PCDH12 | Achchuthan Shanmugasundram edited their review of gene: PCDH12: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PAX1 | Achchuthan Shanmugasundram edited their review of gene: PAX1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PACS2 | Achchuthan Shanmugasundram edited their review of gene: PACS2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PACS1 | Achchuthan Shanmugasundram edited their review of gene: PACS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | OTUD6B | Achchuthan Shanmugasundram edited their review of gene: OTUD6B: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | NUP188 | Achchuthan Shanmugasundram edited their review of gene: NUP188: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | NSRP1 | Achchuthan Shanmugasundram 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; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | NONO | Achchuthan Shanmugasundram edited their review of gene: NONO: Added comment: The rating of this gene has been updated to green and the mode of inheritance 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.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | NFIB | Achchuthan Shanmugasundram edited their review of gene: NFIB: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | NFIA | Achchuthan Shanmugasundram edited their review of gene: NFIA: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MYOD1 | Achchuthan Shanmugasundram edited their review of gene: MYOD1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MPDZ | Achchuthan Shanmugasundram edited their review of gene: MPDZ: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MINPP1 | Achchuthan Shanmugasundram edited their review of gene: MINPP1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MED27 | Achchuthan Shanmugasundram edited their review of gene: MED27: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MED25 | Achchuthan Shanmugasundram edited their review of gene: MED25: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MCIDAS | Achchuthan Shanmugasundram edited their review of gene: MCIDAS: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MAPKAPK5 | Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MAN2C1 | Achchuthan Shanmugasundram edited their review of gene: MAN2C1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | MAB21L1 | Achchuthan Shanmugasundram edited their review of gene: MAB21L1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | LTBP1 | Achchuthan Shanmugasundram edited their review of gene: LTBP1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | KIF4A | Achchuthan Shanmugasundram edited their review of gene: KIF4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | KIDINS220 | Achchuthan Shanmugasundram edited their review of gene: KIDINS220: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | JAM3 | Achchuthan Shanmugasundram edited their review of gene: JAM3: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | IRX5 | Achchuthan Shanmugasundram edited their review of gene: IRX5: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | INTS1 | Achchuthan Shanmugasundram edited their review of gene: INTS1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | IFT74 | Achchuthan Shanmugasundram edited their review of gene: IFT74: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HYAL2 | Achchuthan Shanmugasundram edited their review of gene: HYAL2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HSPA9 | Achchuthan Shanmugasundram edited their review of gene: HSPA9: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HS2ST1 | Achchuthan Shanmugasundram edited their review of gene: HS2ST1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HNRNPH2 | Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: 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: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HMX1 | Achchuthan Shanmugasundram edited their review of gene: HMX1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HK1 | Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | HHAT | Achchuthan Shanmugasundram edited their review of gene: HHAT: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | H3F3A | Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GTPBP2 | Achchuthan Shanmugasundram edited their review of gene: GTPBP2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GRM7 | Achchuthan Shanmugasundram edited their review of gene: GRM7: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GPX4 | Achchuthan Shanmugasundram commented on gene: GPX4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GHR | Achchuthan Shanmugasundram edited their review of gene: GHR: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GFRA1 | Achchuthan Shanmugasundram edited their review of gene: GFRA1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GDF11 | Achchuthan Shanmugasundram edited their review of gene: GDF11: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | GATA1 | Achchuthan Shanmugasundram edited their review of gene: GATA1: 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: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | FRA10AC1 | Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | FOXJ1 | Achchuthan Shanmugasundram edited their review of gene: FOXJ1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | FBRSL1 | Achchuthan Shanmugasundram edited their review of gene: FBRSL1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | FAT1 | Achchuthan Shanmugasundram edited their review of gene: FAT1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | FAM149B1 | Achchuthan Shanmugasundram edited their review of gene: FAM149B1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | EXOC7 | Achchuthan Shanmugasundram edited their review of gene: EXOC7: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ERGIC1 | Achchuthan Shanmugasundram edited their review of gene: ERGIC1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ERBB3 | Achchuthan Shanmugasundram edited their review of gene: ERBB3: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | EN1 | Achchuthan Shanmugasundram commented on gene: EN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | EFEMP2 | Achchuthan Shanmugasundram edited their review of gene: EFEMP2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | EEF2 | Achchuthan Shanmugasundram edited their review of gene: EEF2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DYNC1I2 | Achchuthan Shanmugasundram edited their review of gene: DYNC1I2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DYNC1I1 | Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DPF2 | Achchuthan Shanmugasundram edited their review of gene: DPF2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DLL1 | Achchuthan Shanmugasundram edited their review of gene: DLL1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DEPDC5 | Achchuthan Shanmugasundram edited their review of gene: DEPDC5: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | DCC | Achchuthan Shanmugasundram commented on gene: DCC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CYBB | Achchuthan Shanmugasundram commented on gene: CYBB: The rating of this gene has been updated to green and the mode of inheritance set 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CTNNA2 | Achchuthan Shanmugasundram commented on gene: CTNNA2: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | COA7 | Achchuthan Shanmugasundram edited their review of gene: COA7: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CLTC | Achchuthan Shanmugasundram edited their review of gene: CLTC: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CFAP52 | Achchuthan Shanmugasundram edited their review of gene: CFAP52: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CFAP45 | Achchuthan Shanmugasundram edited their review of gene: CFAP45: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CEP85L | Achchuthan Shanmugasundram edited their review of gene: CEP85L: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CELSR1 | Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | CCDC22 | Achchuthan Shanmugasundram edited their review of gene: CCDC22: 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: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | C2orf69 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | C12orf57 | Achchuthan Shanmugasundram edited their review of gene: C12orf57: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | BRD4 | Achchuthan Shanmugasundram edited their review of gene: BRD4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | BRCA1 | Achchuthan Shanmugasundram edited their review of gene: BRCA1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ATN1 | Achchuthan Shanmugasundram edited their review of gene: ATN1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ATAD1 | Achchuthan Shanmugasundram edited their review of gene: ATAD1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ARL3 | Achchuthan Shanmugasundram edited their review of gene: ARL3: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ARID2 | Achchuthan Shanmugasundram edited their review of gene: ARID2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | APC2 | Achchuthan Shanmugasundram edited their review of gene: APC2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | AP4S1 | Achchuthan Shanmugasundram edited their review of gene: AP4S1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | AP4B1 | Achchuthan Shanmugasundram edited their review of gene: AP4B1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ANGPT2 | Achchuthan Shanmugasundram commented on gene: ANGPT2: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ALPK3 | Achchuthan Shanmugasundram edited their review of gene: ALPK3: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ALG14 | Achchuthan Shanmugasundram edited their review of gene: ALG14: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ALDH1A2 | Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | AFF3 | Achchuthan Shanmugasundram 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, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ADCY6 | Achchuthan Shanmugasundram edited their review of gene: ADCY6: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | ACVRL1 | Achchuthan Shanmugasundram edited their review of gene: ACVRL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | ZNF699 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF699. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ZNF526 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF526. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ZNF462 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ZNF335 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF335. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ZMYM2 | Achchuthan Shanmugasundram Mode of inheritance for gene ZMYM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | ZMIZ1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZMIZ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | WWOX |
Achchuthan Shanmugasundram Source NHS GMS was added to WWOX. Source Expert Review Green was added to WWOX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | WDR4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDR4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | WDR37 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDR37. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | VPS4A |
Achchuthan Shanmugasundram Source Expert Review Green was added to VPS4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | UBR7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | UBA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TSEN15 |
Achchuthan Shanmugasundram Source NHS GMS was added to TSEN15. Source Expert Review Green was added to TSEN15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TRRAP |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TRIM71 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRIM71. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TP73 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TP73. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TOR1AIP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TOR1AIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TMTC3 |
Achchuthan Shanmugasundram Source NHS GMS was added to TMTC3. Source Expert Review Green was added to TMTC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TMEM218 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM218. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | TLL1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to TLL1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.191 | THOC2 |
Achchuthan Shanmugasundram Source NHS GMS was added to THOC2. Source Expert Review Green was added to THOC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | STT3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SPTB |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPTB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SPINT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPINT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SPEN |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPEN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SOX11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SMARCD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SMAD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMAD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SKIV2L |
Achchuthan Shanmugasundram Source Expert Review Green was added to SKIV2L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SIN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SHMT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SHMT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SEMA3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SEMA3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SCN5A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SCN3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | SCAF4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RPL15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RPL15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RNU12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNU12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RNF125 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNF125. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RNF113A |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RLIM |
Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RBP4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RBP4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RAD51 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | RAD50 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAD50. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PXDN |
Achchuthan Shanmugasundram Source NHS GMS was added to PXDN. Source Expert Review Green was added to PXDN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PTPN23 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN23. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PRR12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PRF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PRF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PPP3CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PPP2R3C |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2R3C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PPP2CA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PPIL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PPIL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PLPBP |
Achchuthan Shanmugasundram Source NHS GMS was added to PLPBP. Source Expert Review Green was added to PLPBP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PLEC |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PIGH |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PIDD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIDD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PHF21A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PGAP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PGAP1. Source Expert Review Green was added to PGAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PDE3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PCDH12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PCDH12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PAX1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PAX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PACS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | PACS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | OTUD6B |
Achchuthan Shanmugasundram Source NHS GMS was added to OTUD6B. Source Expert Review Green was added to OTUD6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | NUP188 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP188. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | NSRP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NSRP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | NONO |
Achchuthan Shanmugasundram Source Expert Review Green was added to NONO. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | NFIB |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | NFIA |
Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MYOD1 |
Achchuthan Shanmugasundram Source NHS GMS was added to MYOD1. Source Expert Review Green was added to MYOD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MPDZ |
Achchuthan Shanmugasundram Source Expert Review Green was added to MPDZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MINPP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MINPP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MED27 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MED25 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED25. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MCIDAS |
Achchuthan Shanmugasundram Source Expert Review Green was added to MCIDAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MAPKAPK5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAPKAPK5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MAN2C1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAN2C1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | MAB21L1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | LTBP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LTBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | KIF4A |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | KIDINS220 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | JAM3 |
Achchuthan Shanmugasundram Source NHS GMS was added to JAM3. Source Expert Review Green was added to JAM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | IRX5 |
Achchuthan Shanmugasundram Source NHS GMS was added to IRX5. Source Expert Review Green was added to IRX5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | INTS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to INTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | IFT74 |
Achchuthan Shanmugasundram Source Expert Review Green was added to IFT74. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HYAL2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HYAL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HSPA9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HS2ST1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HS2ST1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HNRNPH2 |
Achchuthan Shanmugasundram Source NHS GMS was added to HNRNPH2. Source Expert Review Green was added to HNRNPH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HMX1 |
Achchuthan Shanmugasundram Source NHS GMS was added to HMX1. Source Expert Review Green was added to HMX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HK1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | HHAT |
Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | H3F3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to H3F3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GTPBP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GTPBP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GRM7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GPX4 |
Achchuthan Shanmugasundram Source NHS GMS was added to GPX4. Source Expert Review Green was added to GPX4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GHR |
Achchuthan Shanmugasundram Source Expert Review Green was added to GHR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GFRA1 |
Achchuthan Shanmugasundram Source NHS GMS was added to GFRA1. Source Expert Review Green was added to GFRA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GDF11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GDF11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | GATA1 |
Achchuthan Shanmugasundram Source NHS GMS was added to GATA1. Source Expert Review Green was added to GATA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | FRA10AC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FRA10AC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | FOXJ1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FOXJ1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | FBRSL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FBRSL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | FAT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | FAM149B1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | EXOC7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EXOC7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ERGIC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERGIC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ERBB3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | EN1 |
Achchuthan Shanmugasundram Source NHS GMS was added to EN1. Source Expert Review Green was added to EN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | EFEMP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EFEMP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | EEF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | DYNC1I2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | DYNC1I1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | DPF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | DLL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DLL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | DEPDC5 |
Achchuthan Shanmugasundram Source NHS GMS was added to DEPDC5. Source Expert Review Green was added to DEPDC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | DCC |
Achchuthan Shanmugasundram Source NHS GMS was added to DCC. Source Expert Review Green was added to DCC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CYBB |
Achchuthan Shanmugasundram Source Expert Review Green was added to CYBB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CTNNA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | COA7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COA7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CLTC |
Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CFAP52 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP52. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CFAP45 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP45. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CEP85L |
Achchuthan Shanmugasundram Source Expert Review Green was added to CEP85L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | CELSR1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to CELSR1. Source NHS GMS was added to CELSR1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.191 | CCDC22 |
Achchuthan Shanmugasundram Source NHS GMS was added to CCDC22. Source Expert Review Green was added to CCDC22. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | C2orf69 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | C12orf57 |
Achchuthan Shanmugasundram Source NHS GMS was added to C12orf57. Source Expert Review Green was added to C12orf57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | BRD4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | BRCA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BRCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ATN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ATAD1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATAD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ARL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ARID2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | APC2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to APC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | AP4S1 |
Achchuthan Shanmugasundram Source NHS GMS was added to AP4S1. Source Expert Review Green was added to AP4S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | AP4B1 |
Achchuthan Shanmugasundram Source NHS GMS was added to AP4B1. Source Expert Review Green was added to AP4B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ANGPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ANGPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ALPK3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ALG14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ALDH1A2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALDH1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | AFF3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ADCY6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADCY6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.191 | ACVRL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACVRL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.6 | RNU4-2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RNU4-2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | MAST3 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: MAST3. Tag Q2_24_MOI was removed from gene: MAST3. Tag Q2_24_NHS_review was removed from gene: MAST3. |
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| Early onset or syndromic epilepsy v6.6 | ANO4 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ANO4. Tag Q2_24_MOI was removed from gene: ANO4. |
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| Early onset or syndromic epilepsy v6.6 | PRICKLE1 |
Achchuthan Shanmugasundram Tag Q1_24_demote_amber was removed from gene: PRICKLE1. Tag Q1_24_expert_review was removed from gene: PRICKLE1. |
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| Early onset or syndromic epilepsy v6.6 | ZNFX1 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZNFX1. Tag Q1_24_NHS_review was removed from gene: ZNFX1. |
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| Early onset or syndromic epilepsy v6.6 | KCNA3 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA3. Tag Q1_24_NHS_review was removed from gene: KCNA3. |
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| Early onset or syndromic epilepsy v6.6 | KCNA1 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: KCNA1. Tag Q1_24_NHS_review was removed from gene: KCNA1. |
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| Early onset or syndromic epilepsy v6.6 | HSD17B10 | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: HSD17B10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | COL4A3BP | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: COL4A3BP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | CAMSAP1 | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: CAMSAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | ANK2 | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | ZNFX1 | Achchuthan Shanmugasundram reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | RNU4-2 | Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | PRICKLE1 | Achchuthan Shanmugasundram reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | MAST3 | Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | KCNA3 | Achchuthan Shanmugasundram commented on gene: KCNA3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | KCNA1 | Achchuthan Shanmugasundram commented on gene: KCNA1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | HSD17B10 | Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | COL4A3BP | Achchuthan Shanmugasundram reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | CAMSAP1 | Achchuthan Shanmugasundram commented on gene: CAMSAP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | ANO4 | Achchuthan Shanmugasundram reviewed gene: ANO4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.6 | ANK2 | Achchuthan Shanmugasundram commented on gene: ANK2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.5 | ZNFX1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ZNFX1. Source Expert Review Green was added to ZNFX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | RNU4-2 |
Achchuthan Shanmugasundram Source NHS GMS was added to RNU4-2. Source Expert Review Green was added to RNU4-2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | PRICKLE1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to PRICKLE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Early onset or syndromic epilepsy v6.5 | MAST3 |
Achchuthan Shanmugasundram Source NHS GMS was added to MAST3. Source Expert Review Green was added to MAST3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | KCNA3 |
Achchuthan Shanmugasundram Source NHS GMS was added to KCNA3. Source Expert Review Green was added to KCNA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | KCNA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | HSD17B10 |
Achchuthan Shanmugasundram Source NHS GMS was added to HSD17B10. Source Expert Review Green was added to HSD17B10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | COL4A3BP |
Achchuthan Shanmugasundram Source NHS GMS was added to COL4A3BP. Source Expert Review Green was added to COL4A3BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | CAMSAP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to CAMSAP1. Source Expert Review Green was added to CAMSAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | ANO4 |
Achchuthan Shanmugasundram Source NHS GMS was added to ANO4. Source Expert Review Green was added to ANO4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v6.5 | ANK2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ANK2. Source Expert Review Green was added to ANK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Distal myopathies v5.2 | CNBP_CCTG | Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v5.2 | CNBP_CCTG | Achchuthan Shanmugasundram reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v5.2 | CNBP_CCTG | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v5.2 | CNBP_CCTG | Achchuthan Shanmugasundram Classified STR: CNBP_CCTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v5.2 | CNBP_CCTG | Achchuthan Shanmugasundram Str: cnbp_cctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v6.3 | CLCN5 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: CLCN5. Tag Q2_24_NHS_review was removed from gene: CLCN5. |
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| Cystic kidney disease v6.3 | CLCN5 | Achchuthan Shanmugasundram reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v6.2 | CLCN5 |
Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5. Source Expert Review Green was added to CLCN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.42 | CCDC78 |
Achchuthan Shanmugasundram Tag Q4_22_demote_amber was removed from gene: CCDC78. Tag Q4_22_expert_review was removed from gene: CCDC78. |
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| Congenital myopathy v4.42 | UNC45B |
Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: UNC45B. Tag Q4_22_expert_review was removed from gene: UNC45B. Tag Q4_22_NHS_review was removed from gene: UNC45B. |
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| Congenital myopathy v4.42 | MLIP | Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: MLIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | LETM1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1. Tag Q3_23_NHS_review was removed from gene: LETM1. Tag Q3_23_MOI was removed from gene: LETM1. |
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| Congenital myopathy v4.42 | ZC4H2 |
Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ZC4H2. Tag Q2_23_NHS_review was removed from gene: ZC4H2. |
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| Congenital myopathy v4.42 | TRDN |
Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: TRDN. Tag Q2_23_NHS_review was removed from gene: TRDN. |
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| Congenital myopathy v4.42 | TPM2 |
Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: TPM2. Tag Q2_23_MOI was removed from gene: TPM2. Tag Q2_23_NHS_review was removed from gene: TPM2. |
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| Congenital myopathy v4.42 | TNNT1 |
Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: TNNT1. Tag Q2_23_NHS_review was removed from gene: TNNT1. |
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| Congenital myopathy v4.42 | MYH7 |
Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: MYH7. Tag Q2_23_NHS_review was removed from gene: MYH7. |
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| Congenital myopathy v4.42 | MYH3 |
Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: MYH3. Tag Q2_23_NHS_review was removed from gene: MYH3. |
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| Congenital myopathy v4.42 | SPTBN4 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: SPTBN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | KY |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: KY. Tag Q1_23_NHS_review was removed from gene: KY. |
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| Congenital myopathy v4.42 | GBE1 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: GBE1. Tag Q1_23_NHS_review was removed from gene: GBE1. |
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| Congenital myopathy v4.42 | DNAJB4 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: DNAJB4. Tag Q1_23_NHS_review was removed from gene: DNAJB4. |
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| Congenital myopathy v4.42 | COL25A1 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COL25A1. Tag Q1_23_NHS_review was removed from gene: COL25A1. |
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| Congenital myopathy v4.42 | COL13A1 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: COL13A1. Tag Q1_23_NHS_review was removed from gene: COL13A1. |
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| Congenital myopathy v4.42 | ASCC1 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: ASCC1. Tag Q1_23_NHS_review was removed from gene: ASCC1. |
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| Congenital myopathy v4.42 | GFER | Achchuthan Shanmugasundram reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | ZC4H2 | Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | UNC45B | Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | TRDN | Achchuthan Shanmugasundram commented on gene: TRDN: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | TPM2 | Achchuthan Shanmugasundram commented on gene: TPM2: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | TNNT1 | Achchuthan Shanmugasundram commented on gene: TNNT1: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | SPTBN4 | Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | MYH7 | Achchuthan Shanmugasundram reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | MYH3 | Achchuthan Shanmugasundram commented on gene: MYH3: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | MLIP | Achchuthan Shanmugasundram commented on gene: MLIP: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | LETM1 | Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | KY | Achchuthan Shanmugasundram reviewed gene: KY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | GBE1 | Achchuthan Shanmugasundram commented on gene: GBE1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | DNAJB4 | Achchuthan Shanmugasundram edited their review of gene: DNAJB4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | COL25A1 | Achchuthan Shanmugasundram edited their review of gene: COL25A1: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | COL13A1 | Achchuthan Shanmugasundram commented on gene: COL13A1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | CCDC78 | Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | ASCC1 | Achchuthan Shanmugasundram commented on gene: ASCC1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.41 | ZC4H2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZC4H2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | UNC45B |
Achchuthan Shanmugasundram Source Expert Review Green was added to UNC45B. Source NHS GMS was added to UNC45B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | TRDN |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRDN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | TPM2 | Achchuthan Shanmugasundram Mode of inheritance for gene TPM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.41 | TNNT1 | Achchuthan Shanmugasundram Mode of inheritance for gene TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.41 | SPTBN4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPTBN4. Source NHS GMS was added to SPTBN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | MYH7 | Achchuthan Shanmugasundram Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.41 | MYH3 | Achchuthan Shanmugasundram Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.41 | MLIP |
Achchuthan Shanmugasundram Source Expert Review Green was added to MLIP. Source NHS GMS was added to MLIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | LETM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LETM1. Source NHS GMS was added to LETM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | KY |
Achchuthan Shanmugasundram Source Expert Review Green was added to KY. Source NHS GMS was added to KY. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | GBE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GBE1. Source NHS GMS was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | DNAJB4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJB4. Source NHS GMS was added to DNAJB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | COL25A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1. Source NHS GMS was added to COL25A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | COL13A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1. Source NHS GMS was added to COL13A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.41 | CCDC78 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to CCDC78. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Congenital myopathy v4.41 | ASCC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ASCC1. Source NHS GMS was added to ASCC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease - additional genes v0.67 | PRDM15 | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PRDM15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | NOS1AP | Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: NOS1AP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | PRDM15 | Achchuthan Shanmugasundram commented on gene: PRDM15: 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 for this change on R257 Unexplained young onset end-stage renal disease panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.67 | NOS1AP | Achchuthan Shanmugasundram commented on gene: NOS1AP: 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 for this change on R257 Unexplained young onset end-stage renal disease panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.66 | PRDM15 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PRDM15. Source NHS GMS was added to PRDM15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease - additional genes v0.66 | NOS1AP |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOS1AP. Source NHS GMS was added to NOS1AP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease - additional genes v0.65 | ISCA-37401-Loss | Achchuthan Shanmugasundram reviewed Region: ISCA-37401-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | UPK3A | Achchuthan Shanmugasundram reviewed gene: UPK3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | UPK2 | Achchuthan Shanmugasundram reviewed gene: UPK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TSHZ3 | Achchuthan Shanmugasundram reviewed gene: TSHZ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TNXB | Achchuthan Shanmugasundram reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SPRY1 | Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SOX17 | Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SMARCA4 | Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SLIT2 | Achchuthan Shanmugasundram reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SIX1 | Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SHH | Achchuthan Shanmugasundram reviewed gene: SHH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ROBO2 | Achchuthan Shanmugasundram reviewed gene: ROBO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | MYH11 | Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | KIT | Achchuthan Shanmugasundram reviewed gene: KIT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | HCN3 | Achchuthan Shanmugasundram reviewed gene: HCN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GREM1 | Achchuthan Shanmugasundram reviewed gene: GREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GDNF | Achchuthan Shanmugasundram reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FOXC2 | Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FOXC1 | Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | DLG3 | Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | DACT1 | Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | COX10 | Achchuthan Shanmugasundram reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | CHD1L | Achchuthan Shanmugasundram reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | BMP4 | Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | BICC1 | Achchuthan Shanmugasundram reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACTA2 | Achchuthan Shanmugasundram reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | WDR72 | Achchuthan Shanmugasundram commented on gene: WDR72: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TRAP1 | Achchuthan Shanmugasundram reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | TBX18 | Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SIX5 | Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | SALL1 | Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RRM2B | Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RMND1 | Achchuthan Shanmugasundram commented on gene: RMND1: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RET | Achchuthan Shanmugasundram edited their review of gene: RET: Added comment: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | PBX1 | Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | LRIG2 | Achchuthan Shanmugasundram reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | KYNU | Achchuthan Shanmugasundram reviewed gene: KYNU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ITGA8 | Achchuthan Shanmugasundram reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | HPSE2 | Achchuthan Shanmugasundram reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | HAAO | Achchuthan Shanmugasundram reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GRIP1 | Achchuthan Shanmugasundram reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GLI3 | Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | GATA3 | Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FREM2 | Achchuthan Shanmugasundram reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FREM1 | Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FRAS1 | Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | FAN1 | Achchuthan Shanmugasundram reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | EYA1 | Achchuthan Shanmugasundram reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | DSTYK | Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | CHRM3 | Achchuthan Shanmugasundram reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | CHD7 | Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | C3 | Achchuthan Shanmugasundram reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | BNC2 | Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ARMC9 | Achchuthan Shanmugasundram reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ANOS1 | Achchuthan Shanmugasundram reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | AGTR1 | Achchuthan Shanmugasundram reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | AGT | Achchuthan Shanmugasundram reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACTG2 | Achchuthan Shanmugasundram reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | ACE | Achchuthan Shanmugasundram reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.64 | TBX18 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.64 | TBX18 |
Achchuthan Shanmugasundram gene: TBX18 was added gene: TBX18 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400 |
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| Unexplained young onset end-stage renal disease - additional genes v0.63 | SIX5 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.63 | SIX5 |
Achchuthan Shanmugasundram gene: SIX5 was added gene: SIX5 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2, 610896 |
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| Unexplained young onset end-stage renal disease - additional genes v0.62 | SIX1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.62 | SIX1 |
Achchuthan Shanmugasundram gene: SIX1 was added gene: SIX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX1 were set to Branchiootorenal Spectrum Disorders |
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| Unexplained young onset end-stage renal disease - additional genes v0.61 | SALL1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.61 | SALL1 |
Achchuthan Shanmugasundram gene: SALL1 was added gene: SALL1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL1 were set to imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480 |
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| Unexplained young onset end-stage renal disease - additional genes v0.60 | RRM2B | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.60 | RRM2B |
Achchuthan Shanmugasundram gene: RRM2B was added gene: RRM2B was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 |
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| Unexplained young onset end-stage renal disease - additional genes v0.59 | ROBO2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.59 | ROBO2 |
Achchuthan Shanmugasundram gene: ROBO2 was added gene: ROBO2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878 |
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| Unexplained young onset end-stage renal disease - additional genes v0.58 | RET | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.58 | RET |
Achchuthan Shanmugasundram gene: RET was added gene: RET was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIA, 171400; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Pheochromocytoma, 171300; Renal Adysplasia; Medullary thyroid carcinoma, 155240 |
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| Unexplained young onset end-stage renal disease - additional genes v0.57 | MYH11 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.57 | MYH11 |
Achchuthan Shanmugasundram gene: MYH11 was added gene: MYH11 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.56 | LRIG2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.56 | LRIG2 |
Achchuthan Shanmugasundram gene: LRIG2 was added gene: LRIG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. Phenotypes for gene: LRIG2 were set to Urofacial syndrome; Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder. |
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| Unexplained young onset end-stage renal disease - additional genes v0.55 | KYNU | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.55 | KYNU |
Achchuthan Shanmugasundram gene: KYNU was added gene: KYNU was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 27604308; 17334708; 28792876 Phenotypes for gene: KYNU were set to ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype; Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) |
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| Unexplained young onset end-stage renal disease - additional genes v0.54 | ITGA8 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.54 | ITGA8 |
Achchuthan Shanmugasundram gene: ITGA8 was added gene: ITGA8 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830 |
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| Unexplained young onset end-stage renal disease - additional genes v0.53 | HPSE2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.53 | HPSE2 |
Achchuthan Shanmugasundram gene: HPSE2 was added gene: HPSE2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPSE2 were set to 20560210; 20560209 Phenotypes for gene: HPSE2 were set to Congenital bladder disease: dyssynergic, high pressure bladder; Urofacial syndrome 1 236730; Urofacial Syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.52 | HAAO | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.52 | HAAO |
Achchuthan Shanmugasundram gene: HAAO was added gene: HAAO was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 27604308; 17334708; 28792876 Phenotypes for gene: HAAO were set to VACTERL-like phenotype; Multiple congenital malformations |
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| Unexplained young onset end-stage renal disease - additional genes v0.51 | GRIP1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.51 | GRIP1 |
Achchuthan Shanmugasundram gene: GRIP1 was added gene: GRIP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445 Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT |
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| Unexplained young onset end-stage renal disease - additional genes v0.50 | GLI3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.50 | GLI3 |
Achchuthan Shanmugasundram gene: GLI3 was added gene: GLI3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome, OMIM:146510 |
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| Unexplained young onset end-stage renal disease - additional genes v0.49 | FREM2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.49 | FREM2 |
Achchuthan Shanmugasundram gene: FREM2 was added gene: FREM2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to Fraser syndrome 219000; Fraser syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.48 | FREM1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.48 | FREM1 |
Achchuthan Shanmugasundram gene: FREM1 was added gene: FREM1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FREM1 were set to PMID: 24700879 Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 |
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| Unexplained young onset end-stage renal disease - additional genes v0.47 | FRAS1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.47 | FRAS1 |
Achchuthan Shanmugasundram gene: FRAS1 was added gene: FRAS1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to Fraser syndrome 219000; Fraser syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.46 | DSTYK | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.46 | DSTYK |
Achchuthan Shanmugasundram gene: DSTYK was added gene: DSTYK was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux |
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| Unexplained young onset end-stage renal disease - additional genes v0.45 | CHD7 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.45 | CHD7 |
Achchuthan Shanmugasundram gene: CHD7 was added gene: CHD7 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800 |
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| Unexplained young onset end-stage renal disease - additional genes v0.44 | CHD1L | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.44 | CHD1L |
Achchuthan Shanmugasundram gene: CHD1L was added gene: CHD1L was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD1L were set to 24429398; 22146311 Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT) |
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| Unexplained young onset end-stage renal disease - additional genes v0.43 | ANOS1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.43 | ANOS1 |
Achchuthan Shanmugasundram gene: ANOS1 was added gene: ANOS1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ANOS1 were set to 9719154; 11531922 Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Kallman syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.42 | AGTR1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.42 | AGTR1 |
Achchuthan Shanmugasundram gene: AGTR1 was added gene: AGTR1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430; Hypertension, essential, 145500 |
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| Unexplained young onset end-stage renal disease - additional genes v0.41 | AGT | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.41 | AGT |
Achchuthan Shanmugasundram gene: AGT was added gene: AGT was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal tubular dysgenesis, 267430 |
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| Unexplained young onset end-stage renal disease - additional genes v0.40 | ACTG2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.40 | ACTG2 |
Achchuthan Shanmugasundram gene: ACTG2 was added gene: ACTG2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG2 were set to PMID: 25998219 Phenotypes for gene: ACTG2 were set to Berdon syndrome; visceral myopathy; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310; Megacystis-microcolon intestinal hypoperistalsis syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.39 | ACTA2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.39 | ACTA2 |
Achchuthan Shanmugasundram gene: ACTA2 was added gene: ACTA2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Multi system smooth muscle dysfunction |
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| Unexplained young onset end-stage renal disease v5.32 | TBX18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TBX18. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | SIX5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SIX5. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | SIX1 |
Achchuthan Shanmugasundram Source Expert Review Red was added to SIX1. Rating Changed from No List (delete) to Red List (low evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | SALL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SALL1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | RRM2B |
Achchuthan Shanmugasundram Source Expert Review Green was added to RRM2B. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | ROBO2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to ROBO2. Rating Changed from No List (delete) to Red List (low evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | RET |
Achchuthan Shanmugasundram Source NHS GMS was added to RET. Source Expert Review Green was added to RET. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | MYH11 |
Achchuthan Shanmugasundram Source Expert Review Red was added to MYH11. Rating Changed from No List (delete) to Red List (low evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | LRIG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LRIG2. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | KYNU |
Achchuthan Shanmugasundram Source Expert Review Green was added to KYNU. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | ITGA8 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ITGA8. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | HPSE2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HPSE2. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | HAAO |
Achchuthan Shanmugasundram Source Expert Review Green was added to HAAO. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | GRIP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GRIP1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | GLI3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GLI3. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | FREM2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FREM2. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | FREM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FREM1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | FRAS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FRAS1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | DSTYK |
Achchuthan Shanmugasundram Source Expert Review Green was added to DSTYK. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | CHD7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHD7. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | CHD1L |
Achchuthan Shanmugasundram Source Expert Review Red was added to CHD1L. Rating Changed from No List (delete) to Red List (low evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | ANOS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ANOS1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | AGTR1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AGTR1. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | AGT |
Achchuthan Shanmugasundram Source Expert Review Green was added to AGT. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | ACTG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACTG2. Rating Changed from No List (delete) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v5.32 | ACTA2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to ACTA2. Rating Changed from No List (delete) to Red List (low evidence) |
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| Unexplained young onset end-stage renal disease v5.31 | TBX18 | Achchuthan Shanmugasundram All sources for gene: TBX18 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.30 | SIX5 | Achchuthan Shanmugasundram All sources for gene: SIX5 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.29 | SIX1 | Achchuthan Shanmugasundram All sources for gene: SIX1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.28 | SALL1 | Achchuthan Shanmugasundram All sources for gene: SALL1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.27 | RRM2B | Achchuthan Shanmugasundram All sources for gene: RRM2B were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.26 | ROBO2 | Achchuthan Shanmugasundram All sources for gene: ROBO2 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.25 | RET | Achchuthan Shanmugasundram All sources for gene: RET were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.24 | MYH11 | Achchuthan Shanmugasundram All sources for gene: MYH11 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.23 | LRIG2 | Achchuthan Shanmugasundram All sources for gene: LRIG2 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.22 | KYNU | Achchuthan Shanmugasundram All sources for gene: KYNU were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.21 | ITGA8 | Achchuthan Shanmugasundram All sources for gene: ITGA8 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.20 | HPSE2 | Achchuthan Shanmugasundram All sources for gene: HPSE2 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.19 | HAAO | Achchuthan Shanmugasundram All sources for gene: HAAO were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.18 | GRIP1 | Achchuthan Shanmugasundram All sources for gene: GRIP1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.17 | GLI3 | Achchuthan Shanmugasundram All sources for gene: GLI3 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.16 | FREM2 | Achchuthan Shanmugasundram All sources for gene: FREM2 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.15 | FREM1 | Achchuthan Shanmugasundram All sources for gene: FREM1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.14 | FRAS1 | Achchuthan Shanmugasundram All sources for gene: FRAS1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.13 | DSTYK | Achchuthan Shanmugasundram All sources for gene: DSTYK were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.12 | CHD7 | Achchuthan Shanmugasundram All sources for gene: CHD7 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.11 | CHD1L | Achchuthan Shanmugasundram All sources for gene: CHD1L were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.10 | ANOS1 | Achchuthan Shanmugasundram All sources for gene: ANOS1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.9 | AGTR1 | Achchuthan Shanmugasundram All sources for gene: AGTR1 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.8 | AGT | Achchuthan Shanmugasundram All sources for gene: AGT were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.7 | ACTG2 | Achchuthan Shanmugasundram All sources for gene: ACTG2 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.6 | ACTA2 | Achchuthan Shanmugasundram All sources for gene: ACTA2 were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.38 | WDR72 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.38 | WDR72 |
Achchuthan Shanmugasundram gene: WDR72 was added gene: WDR72 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS,Expert Review Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to 30028003; 30779877; 31959358; 33033857 Phenotypes for gene: WDR72 were set to hereditary distal renal tubular acidosis; distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 |
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| Unexplained young onset end-stage renal disease - additional genes v0.37 | UPK3A | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.37 | UPK3A |
Achchuthan Shanmugasundram gene: UPK3A was added gene: UPK3A was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: UPK3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UPK3A were set to Renal Adysplasia |
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| Unexplained young onset end-stage renal disease - additional genes v0.36 | UPK2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.36 | UPK2 |
Achchuthan Shanmugasundram gene: UPK2 was added gene: UPK2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: UPK2 was set to Other |
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| Unexplained young onset end-stage renal disease v5.5 | UPK2 | Achchuthan Shanmugasundram Mode of inheritance for gene UPK2 was changed from Other - please specifiy in evaluation comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.35 | TSHZ3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.35 | TSHZ3 |
Achchuthan Shanmugasundram gene: TSHZ3 was added gene: TSHZ3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.34 | TRAP1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.34 | TRAP1 |
Achchuthan Shanmugasundram gene: TRAP1 was added gene: TRAP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green gene-checked tags were added to gene: TRAP1. Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAP1 were set to 24152966 Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL 192350 |
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| Unexplained young onset end-stage renal disease - additional genes v0.33 | TNXB | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.33 | TNXB |
Achchuthan Shanmugasundram gene: TNXB was added gene: TNXB was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TNXB was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.32 | SPRY1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.32 | SPRY1 |
Achchuthan Shanmugasundram gene: SPRY1 was added gene: SPRY1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SPRY1 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.31 | SOX17 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.31 | SOX17 |
Achchuthan Shanmugasundram gene: SOX17 was added gene: SOX17 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SOX17 was set to Unknown Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674 |
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| Unexplained young onset end-stage renal disease - additional genes v0.30 | SMARCA4 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.30 | SMARCA4 |
Achchuthan Shanmugasundram gene: SMARCA4 was added gene: SMARCA4 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SMARCA4 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.29 | SLIT2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.29 | SLIT2 |
Achchuthan Shanmugasundram gene: SLIT2 was added gene: SLIT2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SLIT2 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.28 | SHH | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.28 | SHH |
Achchuthan Shanmugasundram gene: SHH was added gene: SHH was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SHH was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.27 | RMND1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.27 | RMND1 |
Achchuthan Shanmugasundram gene: RMND1 was added gene: RMND1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS,Literature Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 31568715; 31889854; 32911714 Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, OMIM:614922 |
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| Unexplained young onset end-stage renal disease - additional genes v0.26 | PRDM15 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.26 | PRDM15 |
Achchuthan Shanmugasundram gene: PRDM15 was added gene: PRDM15 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Amber,Literature Q2_24_promote_green tags were added to gene: PRDM15. Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM15 were set to 31950080; 33593823 Phenotypes for gene: PRDM15 were set to steroid-resistant nephrotic syndrome, MONDO:0044765 |
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| Unexplained young onset end-stage renal disease - additional genes v0.25 | PBX1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.25 | PBX1 |
Achchuthan Shanmugasundram gene: PBX1 was added gene: PBX1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PBX1 were set to 28270404; 28566479 Phenotypes for gene: PBX1 were set to CAKUT |
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| Unexplained young onset end-stage renal disease - additional genes v0.24 | NOS1AP | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.24 | NOS1AP |
Achchuthan Shanmugasundram gene: NOS1AP was added gene: NOS1AP was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Amber,Literature Q1_24_promote_green tags were added to gene: NOS1AP. Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOS1AP were set to 33523862 Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, OMIM:619155 |
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| Unexplained young onset end-stage renal disease - additional genes v0.23 | KIT | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.23 | KIT |
Achchuthan Shanmugasundram gene: KIT was added gene: KIT was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: KIT was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.22 | ISCA-37401-Loss | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.22 | ISCA-37401-Loss |
Achchuthan Shanmugasundram Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.21 | HCN3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.21 | HCN3 |
Achchuthan Shanmugasundram gene: HCN3 was added gene: HCN3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: HCN3 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.20 | GREM1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.20 | GREM1 |
Achchuthan Shanmugasundram gene: GREM1 was added gene: GREM1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: GREM1 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.19 | GDNF | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.19 | GDNF |
Achchuthan Shanmugasundram gene: GDNF was added gene: GDNF was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: GDNF was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.18 | GATA3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.18 | GATA3 |
Achchuthan Shanmugasundram gene: GATA3 was added gene: GATA3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease |
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| Unexplained young onset end-stage renal disease - additional genes v0.17 | FOXC2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.17 | FOXC2 |
Achchuthan Shanmugasundram gene: FOXC2 was added gene: FOXC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: FOXC2 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.16 | FOXC1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.16 | FOXC1 |
Achchuthan Shanmugasundram gene: FOXC1 was added gene: FOXC1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: FOXC1 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.15 | FAN1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.15 | FAN1 |
Achchuthan Shanmugasundram gene: FAN1 was added gene: FAN1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAN1 were set to 22772369; 35931300 Phenotypes for gene: FAN1 were set to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898 |
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| Unexplained young onset end-stage renal disease - additional genes v0.14 | EYA1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.14 | EYA1 |
Achchuthan Shanmugasundram gene: EYA1 was added gene: EYA1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Otofaciocervical syndrome, 166780; Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders; Anterior segment anomalies with or without cataract, 113650 |
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| Unexplained young onset end-stage renal disease - additional genes v0.13 | DLG3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.13 | DLG3 |
Achchuthan Shanmugasundram gene: DLG3 was added gene: DLG3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: DLG3 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.12 | DACT1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.12 | DACT1 |
Achchuthan Shanmugasundram gene: DACT1 was added gene: DACT1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DACT1 were set to 28054444; 19701191; 22610794 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2 |
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| Unexplained young onset end-stage renal disease - additional genes v0.11 | COX10 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.11 | COX10 |
Achchuthan Shanmugasundram gene: COX10 was added gene: COX10 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: COX10 was set to Unknown Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency |
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| Unexplained young onset end-stage renal disease - additional genes v0.10 | CHRM3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.10 | CHRM3 |
Achchuthan Shanmugasundram gene: CHRM3 was added gene: CHRM3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM3 were set to 10944224; 22077972; 31441039 Phenotypes for gene: CHRM3 were set to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease |
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| Unexplained young onset end-stage renal disease - additional genes v0.9 | C3 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.9 | C3 |
Achchuthan Shanmugasundram gene: C3 was added gene: C3 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: C3 were set to 15781264; 18796626 Phenotypes for gene: C3 were set to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD |
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| Unexplained young onset end-stage renal disease - additional genes v0.8 | BNC2 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.8 | BNC2 |
Achchuthan Shanmugasundram gene: BNC2 was added gene: BNC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,Other Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BNC2 were set to 31051115 Phenotypes for gene: BNC2 were set to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612 Mode of pathogenicity for gene: BNC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Unexplained young onset end-stage renal disease - additional genes v0.7 | BMP4 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.7 | BMP4 |
Achchuthan Shanmugasundram gene: BMP4 was added gene: BMP4 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: BMP4 was set to Unknown |
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| Unexplained young onset end-stage renal disease - additional genes v0.6 | BICC1 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.6 | BICC1 |
Achchuthan Shanmugasundram gene: BICC1 was added gene: BICC1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: BICC1 was set to Unknown Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to}, 601331 |
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| Unexplained young onset end-stage renal disease - additional genes v0.5 | ARMC9 | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.5 | ARMC9 |
Achchuthan Shanmugasundram gene: ARMC9 was added gene: ARMC9 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC9 were set to 28625504 Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622 |
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| Unexplained young onset end-stage renal disease - additional genes v0.4 | ACE | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.4 | ACE |
Achchuthan Shanmugasundram gene: ACE was added gene: ACE was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal Tubular Dysgenesis; {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis 267430 |
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| Unexplained young onset end-stage renal disease v5.3 | ACE |
Achchuthan Shanmugasundram Source Expert Review Green was added to ACE. Rating Changed from No List (delete) to Green List (high evidence) |
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| Retinal disorders v6.5 | MAN2B1 |
Siying Lin gene: MAN2B1 was added gene: MAN2B1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to PMID:29859105 Phenotypes for gene: MAN2B1 were set to Retinal dystrophy Mode of pathogenicity for gene: MAN2B1 was set to Other Review for gene: MAN2B1 was set to GREEN Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can be the presenting feature in apparent non-syndromic retinal dystrophy (one individual in the Moorfields cohort) Sources: Literature |
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| Unexplained young onset end-stage renal disease v5.2 | ACE | Achchuthan Shanmugasundram All sources for gene: ACE were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.8 | RRAS | Sarah Leigh commented on gene: RRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v6.2 | TUBA4A | Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: TUBA4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TUBA4A. Tag Q3_24_NHS_review tag was added to gene: TUBA4A. |
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| Adult onset neurodegenerative disorder v6.2 | TUBA4A | Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TUBA4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v6.2 | TUBA4A | Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.73 | TUBA4A | Sarah Leigh changed review comment from: At least seven TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia has been noted as an additional phenotypic feature in patients reported by PMID: 37418012;38884572. Furthermore, cultured fibroblasts from 3 patients with different TUBA4A missense variants, showed significant alterations in microtubule organization and dynamics (PMID: 38884572).; to: At least 15 TUBA4A variants have been associated with Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, (OMIM:616208)(PMID: 25374358; 37418012; 38884572). Spastic ataxia (in 4/13 unrelated cases) and nystagmus (in 5/13 unrelated cases) have been noted as additional phenotypic features in patients reported by PMID: 37418012; 38884572. Furthermore, functional studies show that missense TUBA4A variants significantly alter the microtubule organization and dynamics, diminishing its repolymerization capability (PMID: 25374358; 38884572). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v6.2 | TUBA4A | Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.73 | TUBA4A | Sarah Leigh reviewed gene: TUBA4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.73 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to 25374358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.72 | TUBA4A | Sarah Leigh Classified gene: TUBA4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.72 | TUBA4A | Sarah Leigh Gene: tuba4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh Classified gene: TUBA4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.5 | TUBA4A | Sarah Leigh Gene: tuba4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.71 | TUBA4A | Sarah Leigh Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v6.2 | TUBA4A | Sarah Leigh Phenotypes for gene: TUBA4A were changed from Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208 to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.4 | TUBA4A | Sarah Leigh Phenotypes for gene: TUBA4A were changed from Ataxia; Spasticity; Nystagmus; Abnormal eye movements; Dysarthria; cognitive decline to Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208; amyotrophic lateral sclerosis type 22, MONDO:0014531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.3 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to 37418012; 38884572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.70 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to https://doi.org/10.1016/j.neuron.2014.09.027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.2 | TUBA4A | Sarah Leigh Publications for gene: TUBA4A were set to PMID: 37418012; 38884572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.68 | TP63 |
Aleš Maver gene: TP63 was added gene: TP63 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to PMID: 36856110; 35801529; 30924587 Phenotypes for gene: TP63 were set to Premature ovarian insufficiency Penetrance for gene: TP63 were set to unknown Review for gene: TP63 was set to GREEN gene: TP63 was marked as current diagnostic Added comment: This gene is a well-established monogenic cause of POI: https://www.omim.org/entry/620311 Sources: Literature |
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| Intellectual disability v7.39 | PRKACB |
Achchuthan Shanmugasundram changed review comment from: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.; to: PMID:39095811 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. This paper reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours. |
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| Intellectual disability v7.39 | PSMC5 |
Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. This paper reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM. |
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| Intellectual disability v7.39 | LRRC7 |
Andrew Mumford gene: LRRC7 was added gene: LRRC7 was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: LRRC7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRRC7 were set to (PMID: 36928819):(PMID: 39256359) Phenotypes for gene: LRRC7 were set to neurodevelopmental abnormality; intelelctual disability; autism; abnormal earting behaviours Penetrance for gene: LRRC7 were set to Complete Review for gene: LRRC7 was set to GREEN Added comment: The association between monoallelic rare LoF variants in LRRC7 and disease class 'intellectual disability' in 100KGP participants was reported first in in 2023 (PMID 36928819). Detailed phenotype descriptions of the nine pedigrees in the 100KGP discovery collection plus a further sixteen pedigrees in a multicentre european case collection were subsequently published in 2024 (33 affected cases in total; PMID 39256359). This paper confirms functional impact of observed variants on synaptic targeting of the encoded protein Densin-180 in a manner consistent with human phenotype. Sources: Expert Review, Literature |
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| Unexplained young onset end-stage renal disease - additional genes v0.3 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.2 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.1 | Achchuthan Shanmugasundram Panel types changed to Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.1 | TUBA4A |
Nour Elkhateeb gene: TUBA4A was added gene: TUBA4A was added to Hereditary ataxia with onset in adulthood. Sources: Literature Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to PMID: 37418012; 38884572 Phenotypes for gene: TUBA4A were set to Ataxia; Spasticity; Nystagmus; Abnormal eye movements; Dysarthria; cognitive decline Penetrance for gene: TUBA4A were set to unknown Review for gene: TUBA4A was set to GREEN Added comment: Heterozygous missense TUBA4A variants (p.Pro173Ser, p.Pro173Arg, and p.Glu415Lys) recently reported to be associated with ataxia and spasticity in 24 individuals from 13 families in PMID: 37418012 and 38884572 Sources: Literature |
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| Intellectual disability v7.39 | CRELD1 | Achchuthan Shanmugasundram Classified gene: CRELD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.39 | CRELD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.39 | CRELD1 | Achchuthan Shanmugasundram Gene: creld1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.38 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.38 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.38 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.37 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.37 | CRELD1 | Achchuthan Shanmugasundram Publications for gene: CRELD1 were set to PMID: 37947183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.36 | CRELD1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CRELD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.36 | CRELD1 | Achchuthan Shanmugasundram reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37947183; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | COQ8B |
Siying Lin gene: COQ8B was added gene: COQ8B was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID 39226897 Phenotypes for gene: COQ8B were set to Retinal dystrophy Mode of pathogenicity for gene: COQ8B was set to Other Review for gene: COQ8B was set to GREEN Added comment: Recent publication of 4 families with non-syndromic retinal dystrophy associated with biallelic COQ8B variants, with cell-based analysis of recombinant proteins deriving from these genotypes, showing a significant decrease in ligand-protein interaction compared to the wild type. Sources: Literature |
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| Intellectual disability v7.36 | PRKACB | Achchuthan Shanmugasundram Publications for gene: PRKACB were set to 33058759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.36 | PRKACB | Achchuthan Shanmugasundram Mode of inheritance for gene: PRKACB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.35 | PRKACB | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Three of five unrelated cases reported with PRKACB variants had intellectual disability, of which one had mild ID. Hence, it should still be rated amber. The 'watchlist' tag has been added to look out for new evidence in the future.; to: Comment on list classification: In total, three of five unrelated cases reported with PRKACB variants had intellectual disability, of which one had mild ID. Hence, it should still be rated amber. The 'watchlist' tag has been added to look out for new evidence in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.35 | PRKACB | Achchuthan Shanmugasundram edited their review of gene: PRKACB: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.35 | PRKACB | Achchuthan Shanmugasundram Classified gene: PRKACB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.35 | PRKACB | Achchuthan Shanmugasundram Added comment: Comment on list classification: Three of five unrelated cases reported with PRKACB variants had intellectual disability, of which one had mild ID. Hence, it should still be rated amber. The 'watchlist' tag has been added to look out for new evidence in the future. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.35 | PRKACB | Achchuthan Shanmugasundram Gene: prkacb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PRKACB | Achchuthan Shanmugasundram changed review comment from: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours.; to: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PRKACB | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: PRKACB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PRKACB | Achchuthan Shanmugasundram changed review comment from: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours; to: PMID:39095811 reported the identification of a de novo missense variant in PRKACB on ES re-analysis in an individual with intellectual disability, refractory focal epilepsy, spasticity, periventricular nodular heterotopia, a common atrium / AVSD, polydactyly and several tumours. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PRKACB | Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: 39095811; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PSMC5 |
Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one). This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM. |
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| Intellectual disability v7.34 | PSMC5 | Achchuthan Shanmugasundram Classified gene: PSMC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PSMC5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.34 | PSMC5 | Achchuthan Shanmugasundram Gene: psmc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.33 | PSMC5 |
Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and not mentioned in one). This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one). This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM. |
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| Intellectual disability v7.33 | PSMC5 | Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.33 | PSMC5 | Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.33 | PSMC5 | Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.33 | PSMC5 | Achchuthan Shanmugasundram Publications for gene: PSMC5 were set to 33057194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.32 | PSMC5 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSMC5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.32 | PSMC5 | Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 38776958; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.17 | WFDC2 | Achchuthan Shanmugasundram Classified gene: WFDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.17 | WFDC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available (10 unrelated families) for the association of this gene with green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.17 | WFDC2 | Achchuthan Shanmugasundram Gene: wfdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.16 | WFDC2 | Achchuthan Shanmugasundram Phenotypes for gene: WFDC2 were changed from bronchiectasis; nasal polyposis to bronchiectasis, MONDO:0004822; Nasal polyposis, HP:0100582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.15 | WFDC2 | Achchuthan Shanmugasundram Publications for gene: WFDC2 were set to PMID: 38626355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.14 | WFDC2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WFDC2. Tag Q3_24_NHS_review tag was added to gene: WFDC2. |
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| Respiratory ciliopathies including non-CF bronchiectasis v3.14 | WFDC2 | Achchuthan Shanmugasundram reviewed gene: WFDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38626355; Phenotypes: bronchiectasis, MONDO:0004822, Nasal polyposis, HP:0100582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.5 | STX3 | Achchuthan Shanmugasundram Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MONDO:0009635; diarrheal disorder, MONDO:0001673 to Diarrhea 12, with microvillus atrophy, OMIM:619445; Retinal dystrophy and microvillus inclusion disease, OMIM:619446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.4 | STX3 | Achchuthan Shanmugasundram Publications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intestinal failure or congenital diarrhoea v3.3 | STX3 | Achchuthan Shanmugasundram reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33974130; Phenotypes: Diarrhea 12, with microvillus atrophy, OMIM:619445, Retinal dystrophy and microvillus inclusion disease, OMIM:619446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Classified gene: STX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Gene: stx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.4 | STX3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.4 | STX3 |
Achchuthan Shanmugasundram gene: STX3 was added gene: STX3 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX3 were set to 33974130 Phenotypes for gene: STX3 were set to Retinal dystrophy and microvillus inclusion disease, OMIM:619446 Review for gene: STX3 was set to GREEN Added comment: PMID:33974130 assembled a cohort of ten individuals from eight families with microvillus inclusion disease (MVID), which included follow up of five previously reported individuals and five new individuals. All of them had homozygous loss-of-function nonsense variants in STX3 gene. Eight of them presented with a novel syndrome consisting of MVID and early-onset severe retinal dystrophy (EOSRD). All six different variants identified in individuals with MVID and EOSRD are located in exons shared between the STX3A and the STX3B transcripts, while the single variant (p.Arg247Ter) present in other two individuals with MVID only is located in exon 9A and it spares STX3B transcript. Functional studies showed that STX3B transcript is highly expressed in human retina and that the protein is enriched in the inner and outer segments of photoreceptors and in ribbon synapses of the human retina. The study also showed that the inactivation of Stx3 in murine rod photoreceptors leads to a progressive degeneration of photoreceptors, corroborating a recently published study that used a different Stx3 knockout mouse line. In summary, biallelic variants affecting both STX3A and STX3B transcripts cause MVID and EOSRD, while variants affecting only STX3A transcript cause MVID. This gene has been associated with both phenotypes in OMIM (MIMs #619445 & #619446), but not yet in Gene2Phenotype. Sources: Literature |
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| Primary lymphoedema v3.11 | TIE1 | Miel Theunis reviewed gene: TIE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38820174; Phenotypes: lymphatic malformation-11 (LMPHM11, OMIM # 619401); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.88 | RASA1 |
Miel Theunis gene: RASA1 was added gene: RASA1 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA1 were set to 36980822; 33608416; 24038909 Phenotypes for gene: RASA1 were set to capillary malformation-arteriovenous malformation-1 (CMAVM1, OMIM # 608354) Penetrance for gene: RASA1 were set to Incomplete Mode of pathogenicity for gene: RASA1 was set to Other Review for gene: RASA1 was set to GREEN gene: RASA1 was marked as current diagnostic Added comment: It has been clearly demonstrated that RASA1-related CM-AVM is caused by pLoF and missense variants as well as whole gene deletions and can incorporate lymphatic malformations and that these can present at the fetal stage with chylothorax, ascites, NIHF, and increased nuchal translucency. I indicate a reduced penetrance, as the presence of this disorder can be missed entirely in affected parents due to a very variable expressivity. As such, caution is warranted when trio data is being filtered. Sources: Literature |
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| Optic neuropathy v4.33 | BORCS8 | Achchuthan Shanmugasundram Classified gene: BORCS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.33 | BORCS8 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.33 | BORCS8 | Achchuthan Shanmugasundram Gene: borcs8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.32 | BORCS8 | Achchuthan Shanmugasundram Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; hereditary optic neuropathy, MONDO:0020249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.31 | BORCS8 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.31 | BORCS8 | Achchuthan Shanmugasundram edited their review of gene: BORCS8: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, hereditary optic neuropathy, MONDO:0020249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.32 | BORCS8 | Achchuthan Shanmugasundram Classified gene: BORCS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.32 | BORCS8 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (3 unrelated families) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.32 | BORCS8 | Achchuthan Shanmugasundram Gene: borcs8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.31 | BORCS8 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.31 | BORCS8 |
Achchuthan Shanmugasundram gene: BORCS8 was added gene: BORCS8 was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: BORCS8 was set to GREEN Added comment: PMID:38128568 reported five patients from three unrelated families with homozygous or compound heterozygous loss of function missense and PTC variants in BORCS8 gene. All of them (5/5) presented with hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy and dysmorphic features, while spasticity was present in 4/5 patients, and microcephaly, seizures and scoliosis were present in 3/5 patients. Optic atrophy was reported in all four patients assessed. Zebrafish knockout of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human phenotype. In addition, functional evidence from HEK293T cells were reported for both missense and PTC variants. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet associated with any phenotypes in OMIM. Sources: Literature |
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| Intellectual disability v7.31 | BORCS8 |
Achchuthan Shanmugasundram gene: BORCS8 was added gene: BORCS8 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: BORCS8 was set to GREEN Added comment: PMID:38128568 reported five patients from three unrelated families with homozygous or compound heterozygous loss of function missense and PTC variants in BORCS8 gene. All of them (5/5) presented with hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy and dysmorphic features, while spasticity was present in 4/5 patients, and microcephaly, seizures and scoliosis were present in 3/5 patients. Optic atrophy was reported in all four patients assessed. Zebrafish knockout of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human phenotype. In addition, functional evidence from HEK293T cells were reported for both missense and PTC variants. This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet associated with any phenotypes in OMIM. Sources: Literature |
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| Intellectual disability v7.30 | ZNRF3 | Achchuthan Shanmugasundram Classified gene: ZNRF3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.30 | ZNRF3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two patients reported with moderate intellectual disability and hence the evidence is currently not sufficient for green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.30 | ZNRF3 | Achchuthan Shanmugasundram Gene: znrf3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.8 | ZNRF3 | Achchuthan Shanmugasundram Classified gene: ZNRF3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.8 | ZNRF3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are eight individuals reported with complex neurodevelopmental disorder and four patients reported with congenital heart defects. There are only two patients with moderate intellectual disability and hence the evidence is not sufficient for this gene to be rated green on the intellectual disability panel. This gene is therefore being added to this panel for patients with variants in this gene to be picked by the Paediatric disorders WGS clinical indication. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.8 | ZNRF3 | Achchuthan Shanmugasundram Gene: znrf3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.7 | ZNRF3 | Achchuthan Shanmugasundram Phenotypes for gene: ZNRF3 were changed from complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 to complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.7 | ZNRF3 | Achchuthan Shanmugasundram Phenotypes for gene: ZNRF3 were changed from complex neurodevelopmental disorder, MONDO:0100038 to complex neurodevelopmental disorder, MONDO:0100038; congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNRF3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 | Achchuthan Shanmugasundram edited their review of gene: ZNRF3: Changed phenotypes to: complex neurodevelopmental disorder, MONDO:0100038, congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 | Achchuthan Shanmugasundram edited their review of gene: ZNRF3: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.6 | ZNRF3 |
Achchuthan Shanmugasundram gene: ZNRF3 was added gene: ZNRF3 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNRF3 were set to 39168120 Phenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: ZNRF3 was set to AMBER Added comment: PMID:39168120 reported 12 individuals from 11 families with heterozygous de novo variants in ZNRF3 gene (the variant was inherited only in the son of a father-son pair) and presented with various phenotypes. Eight of these individuals harboured missense variants and displayed a complex neurodevelopmental disorder, of which missense variants clustered in the RING ligase domain are associated with macrocephalic NDD. In contrast, four individuals harbouring de novo truncating or de novo or inherited large in-frame deletion variants presented with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects, 2 had moderate intellectual disability and 2 had microcephaly. There is also supporting functional evidence available from in vitro assays. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Intellectual disability v7.29 | ZNRF3 |
Achchuthan Shanmugasundram gene: ZNRF3 was added gene: ZNRF3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNRF3 were set to 39168120 Phenotypes for gene: ZNRF3 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: ZNRF3 was set to AMBER Added comment: PMID:39168120 reported 12 individuals from 11 families with heterozygous de novo variants in ZNRF3 gene (the variant was inherited only in the son of a father-son pair) and presented with various phenotypes. Eight of these individuals harboured missense variants and displayed a complex neurodevelopmental disorder, of which missense variants clustered in the RING ligase domain are associated with macrocephalic NDD. In contrast, four individuals harbouring de novo truncating or de novo or inherited large in-frame deletion variants presented with non-NDD phenotypes, including heart, adrenal, or nephrotic problems. Overall, 4 individuals had congenital heart defects, 2 had moderate intellectual disability and 2 had microcephaly. There is also supporting functional evidence available from in vitro assays. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.11 | PSKH1 | Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.10 | PSKH1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSKH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.6 | PSKH1 | Achchuthan Shanmugasundram Classified gene: PSKH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.6 | PSKH1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and functional studies) available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.6 | PSKH1 | Achchuthan Shanmugasundram Gene: pskh1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v3.5 | PSKH1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSKH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.10 | PSKH1 |
Achchuthan Shanmugasundram gene: PSKH1 was added gene: PSKH1 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSKH1 were set to 39132680 Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382 Review for gene: PSKH1 was set to GREEN Added comment: PMID:39132680 reported the identification of homozygous PSKH1 variants in four consanguineous families from a cohort of 279 families with intrahepatic cholestasis. Two of the four families (families 1 and 2) had the same homozygous founder variant (p.Arg121Trp), while different homozygous variants were reported in the other two families (family 3 - p.Ile126Val & family 4 - p.Arg183Cys). The clinical presentations of the cases are as follows: Family 1 - One patient died at 10 months of age with cholestasis/ liver impairment and kidney impairment. Family 2 - Three cousins with cholestasis (two with liver failure needing transplant) and kidney features (two with kidney failure, 1 with renal echogenicity). Family 3 - Two siblings with hepatic fibrosis (one with unilateral renal agenesis). Family 4 - Two siblings with unexplained liver cirrhosis (one needing transplant) but normal kidney function. Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature |
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| Cholestasis v3.5 | PSKH1 |
Achchuthan Shanmugasundram gene: PSKH1 was added gene: PSKH1 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSKH1 were set to 39132680 Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382 Review for gene: PSKH1 was set to GREEN Added comment: PMID:39132680 reported the identification of homozygous PSKH1 variants in four consanguineous families from a cohort of 279 families with intrahepatic cholestasis. Two of the four families (families 1 and 2) had the same homozygous founder variant (p.Arg121Trp), while different homozygous variants were reported in the other two families (family 3 - p.Ile126Val & family 4 - p.Arg183Cys). The clinical presentations of the cases are as follows: Family 1 - One patient died at 10 months of age with cholestasis/ liver impairment and kidney impairment. Family 2 - Three cousins with cholestasis (two with liver failure needing transplant) and kidney features (two with kidney failure, 1 with renal echogenicity). Family 3 - Two siblings with hepatic fibrosis (one with unilateral renal agenesis). Family 4 - Two siblings with unexplained liver cirrhosis (one needing transplant) but normal kidney function. Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature |
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| Retinal disorders v6.3 | AHR |
Sarah Leigh Tag watchlist was removed from gene: AHR. Tag Q3_24_promote_green tag was added to gene: AHR. Tag Q3_24_NHS_review tag was added to gene: AHR. |
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| Albinism or congenital nystagmus v3.7 | AHR | Sarah Leigh Publications for gene: AHR were set to 28851966; 31009037; 23301081 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v3.6 | AHR | Sarah Leigh reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.3 | AHR | Sarah Leigh reviewed gene: AHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.3 | AHR | Sarah Leigh Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, OMIM:618345; Retinal dystrophy to ?Retinitis pigmentosa 85, OMIM:618345; retinitis pigmentosa 85, MONDO:0032689 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v3.6 | AHR | Sarah Leigh Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to ?Retinitis pigmentosa 85, OMIM:618345; retinitis pigmentosa 85, MONDO:0032689 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.2 | AHR | Sarah Leigh Publications for gene: AHR were set to 29726989; 31896775; 31009037 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.8 | SLC6A19 | Sarah Leigh Publications for gene: SLC6A19 were set to 27604308; 20399395; 19335424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v4.15 | SLC6A19 |
Sarah Leigh changed review comment from: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. Achchuthan Shanmugasundram (Genomics England Curator), 11 Jun 2024; to: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. Achchuthan Shanmugasundram (Genomics England Curator), 11 Jun 2024 |
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| Nephrocalcinosis or nephrolithiasis v4.15 | SLC6A19 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v4.15 | SLC6A19 | Sarah Leigh Publications for gene: SLC6A19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v4.14 | SLC6A19 | Sarah Leigh commented on gene: SLC6A19: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2. The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts). Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v4.14 | SLC6A19 | Sarah Leigh Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v4.13 | SLC6A19 | Sarah Leigh reviewed gene: SLC6A19: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 | SAMD9 | Achchuthan Shanmugasundram Classified gene: SAMD9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 | SAMD9 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the association of SAMD9 gene with immunodeficiency and auto-inflammation. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.8 | SAMD9 | Achchuthan Shanmugasundram Gene: samd9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.7 | SAMD9 | Achchuthan Shanmugasundram Phenotypes for gene: SAMD9 were changed from ataxia-thrombocytopenia syndrome; IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen; MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy); Bone marrow failure; Combined immunodeficiencies with associated or syndromic features to MIRAGE syndrome, OMIM:617053 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.6 | SAMD9 | Achchuthan Shanmugasundram Publications for gene: SAMD9 were set to 28487541; 29535429; 32048120; 29266745; 29175836; 32086639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.5 | SAMD9 | Achchuthan Shanmugasundram Mode of inheritance for gene: SAMD9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | SAMD9 | Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: SAMD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | SAMD9 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SAMD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | SAMD9 |
Achchuthan Shanmugasundram changed review comment from: PMID:27182967 reported 11 patients from 10 unrelated families with a syndromic adrenal hypoplasia, which was named as MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIM #617053). These patients were identified with eight different monoallelic variants in SAMD9 gene and 10 patients were reported with recurrent invasive infections. PMID:31620126 reported a patient presenting with prominent gastrointestinal tract involvement and immunodeficiency, but without any sign of adrenal insufficiency typical for MIRAGE syndrome. This patient was identified with a novel SAMD9 variant (p.Arg824Gln). PMID:33423168 presented the evidence of immunodeficiency and auto-inflammation in 10 patients genetically diagnosed with MIRAGE syndrome. This gene has been associated with relevant phenotypes in both OMIM (MIM #617053) and Gene2Phenotype ('definitive' rating on the DD panel); to: PMID:27182967 reported 11 patients from 10 unrelated families with a syndromic adrenal hypoplasia, which was named as MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIM #617053). These patients were identified with eight different monoallelic variants in SAMD9 gene and 10 patients were reported with recurrent invasive infections. PMID:31620126 reported a patient presenting with prominent gastrointestinal tract involvement and immunodeficiency, but without any sign of adrenal insufficiency typical for MIRAGE syndrome. This patient was identified with a novel SAMD9 variant (p.Arg824Gln). PMID:33423168 presented the evidence of immunodeficiency and auto-inflammation in 10 patients genetically diagnosed with MIRAGE syndrome. This gene has been associated with relevant phenotypes in both OMIM (MIM #617053) and Gene2Phenotype ('definitive' rating on the DD panel). |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | SAMD9 | Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967, 31620126, 33423168; Phenotypes: MIRAGE syndrome, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.190 | MYBBP1A | Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.190 | MYBBP1A | Sarah Leigh Added comment: Comment on list classification: There is enough information for this gene to be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.190 | MYBBP1A | Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.189 | MYBBP1A |
Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: MYBBP1A. Tag Q3_24_MOI tag was added to gene: MYBBP1A. |
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| Fetal anomalies v4.189 | MYBBP1A | Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYBBP1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.189 | MYBBP1A | Sarah Leigh reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.189 | MYBBP1A | Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.189 | MYBBP1A | Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | ITPR3 |
Dmitrijs Rots gene: ITPR3 was added gene: ITPR3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITPR3 were set to PMID: 39270020 Phenotypes for gene: ITPR3 were set to Multisystemic Mode of pathogenicity for gene: ITPR3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: ITPR3 was set to GREEN Added comment: PMID: 39270020 Described 4 cases with the dame de novo variant and a complex phenotype including immunodeficiency + functional work. Enought for green rating Sources: Literature |
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| Childhood onset hereditary spastic paraplegia v6.1 | RINT1 |
Dmitrijs Rots gene: RINT1 was added gene: RINT1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RINT1 were set to PMID: 38990652 Phenotypes for gene: RINT1 were set to HSP Review for gene: RINT1 was set to GREEN Added comment: The PMID: 38990652 reports fourth case with HSP and bialellic RINT1 variants. They also note: "The exon-intron boundaries around intron 11 may represent a mutational hotspot, given variation at c.1671+2 and c.1672-1 in all reported cases thus far." Enough evidence for the green rating! Sources: Literature |
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| Arthrogryposis v7.2 | MYH3 | Dmitrijs Rots reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38856159; Phenotypes: arthrogryposis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.14 | WFDC2 |
Steven Cowman gene: WFDC2 was added gene: WFDC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFDC2 were set to PMID: 38626355 Phenotypes for gene: WFDC2 were set to bronchiectasis; nasal polyposis Review for gene: WFDC2 was set to GREEN Added comment: Reported in 11 individuals from 10 different families, all of whom had nasal polyposis and nine with diffuse bronchiectasis, aged between 7 and 52 years. All those tested had impaired lung function (8/11) and Pseudomonas isolation (8/11). The bronchiectasis was noted to have an upper-lobe predominance in a manner similar to CF. Low nasal NO levels were reported in all (9/11) tested individuals, although no disease causing variants were found in CFTR or PCD-related genes and mucociliary studies found clearance within the normal range, and EM in 8 individuals found normal ciliary ultrastructure. Sweat chloride was normal in all (9/11) tested individuals. Seven pathogenic WFDC2 variants were found, with one missense variant (c.145T>C; p.Cys49Arg) found in 12/22 alleles from 8/11 individuals. Expression analysis of healthy controls found WFDC2 to be expressed in the respiratory epithelium. Glycosylated WFDC2 protein was detectable in the saliva of a healthy control and one heterozygous mother of an affected individual, but not three tested affected individuals. Structural analysis suggested the c.145T>C mutation disrupts N-linked glycosylation of WFDC2 and hence impairs secretion. Sources: Literature |
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| Early onset or syndromic epilepsy v6.4 | RNU2-2P |
Eleanor Williams gene: RNU2-2P was added gene: RNU2-2P was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: RNU2-2P was set to RED Added comment: PRE-PRINT article https://doi.org/10.1101/2024.09.03.24312863 Greene et al 2024 - report 15 cases in which recurrent germline variants in RNU2-2P are found in patients with a severe neurodevelopmental disorder. 9 cases were from the 100,000 Genomes Project, all of which were annotated with Intellectual disability and displayed severe epilepsy usually from the first few months of life. Among these 9 two recurrent variants were found; n.4G>A and n.35A>G. Trio sequencing of 4/5 of the cases with n.4G>A and 3/4 of the cases with n.35A>G showed that the variants were de novo in all cases. A variant with a different alternate allele at nucleotide 35, n.35A>T, was identified in 8 unaffected participants but further analysis suggests that this is a recurring somatic mosaic variant. A further 6 cases were identified in additional datasets of patients with neurodevelopmental abnormalities with de novo variants and no unaffected carriers of either variant; 4 cases had n.4G>A, 1 case had n.35A>G and 1 case had a different alternate allele, n.35A>C. RNU2-2P is currently annotated as a pseudogene in Ensembl, but there is evidence that it is a transcribed gene from PMID.: 35288589 Sources: Literature |
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| Intellectual disability v7.28 | RNU2-2P |
Eleanor Williams gene: RNU2-2P was added gene: RNU2-2P was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: RNU2-2P was set to RED Added comment: PRE-PRINT article https://doi.org/10.1101/2024.09.03.24312863 Greene et al 2024 - report 15 cases in which recurrent germline variants in RNU2-2P are found in patients with a severe neurodevelopmental disorder. 9 cases were from the 100,000 Genomes Project, all of which were annotated with Intellectual disability and displayed severe epilepsy usually from the first few months of life. Among these 9 two recurrent variants were found; n.4G>A and n.35A>G. Trio sequencing of 4/5 of the cases with n.4G>A and 3/4 of the cases with n.35A>G showed that the variants were de novo in all cases. A variant with a different alternate allele at nucleotide 35, n.35A>T, was identified in 8 unaffected participants but further analysis suggests that this is a recurring somatic mosaic variant. A further 6 cases were identified in additional datasets of patients with neurodevelopmental abnormalities with de novo variants and no unaffected carriers of either variant; 4 cases had n.4G>A, 1 case had n.35A>G and 1 case had a different alternate allele, n.35A>C. RNU2-2P is currently annotated as a pseudogene in Ensembl, but there is evidence that it is a transcribed gene from PMID.: 35288589 Sources: Literature |
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| Skeletal dysplasia v6.5 | NT5E |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NT5E. Tag Q3_24_NHS_review tag was added to gene: NT5E. |
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| Likely inborn error of metabolism v6.7 | NT5E |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NT5E. Tag Q3_24_NHS_review tag was added to gene: NT5E. |
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| Likely inborn error of metabolism v6.7 | NT5E | Sarah Leigh edited their review of gene: NT5E: Added comment: NT5E variants have been associated with Calcification of joints and arteries (OMIM:211800), but not with a phenotype in Gen2Phen. At least nine biallelic NT5E variants have been identified in at least 6 unrelated cases of OMIM:211800 (PMID: 21288095; 26010187;28825389; 32522903; 34999808; 26178434; 27045881).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.5 | NT5E | Sarah Leigh edited their review of gene: NT5E: Added comment: NT5E variants have been associated with Calcification of joints and arteries (OMIM:211800), but not with a phenotype in Gen2Phen. At least nine biallelic NT5E variants have been identified in at least 6 unrelated cases of OMIM:211800 (PMID: 21288095; 26010187;28825389; 32522903; 34999808; 26178434; 27045881).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.7 | NT5E | Sarah Leigh Added comment: Comment on publications: PMID: 38199067 reports a cell line made including the variant NT5E c.1126A>G, p.T376A. However, PMID: 37754297 points out the ACMG classification for this variant would be Benign. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.7 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.6 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.5 | NT5E | Sarah Leigh Added comment: Comment on publications: PMID: 38199067 reports a cell line made including the variant NT5E c.1126A>G, p.T376A. However, PMID: 37754297 points out the ACMG classification for this variant would be Benign. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.5 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.5 | NT5E | Sarah Leigh Phenotypes for gene: NT5E were changed from arterial calcification; joint calcification to Calcification of joints and arteries, OMIM:211800; hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.4 | NT5E | Sarah Leigh Phenotypes for gene: NT5E were changed from arterial calcification; joint calcification to Calcification of joints and arteries, OMIM:211800; hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.4 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.3 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.3 | NT5E | Sarah Leigh Classified gene: NT5E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.3 | NT5E | Sarah Leigh Gene: nt5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.2 | NT5E | Sarah Leigh Classified gene: NT5E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.2 | NT5E | Sarah Leigh Gene: nt5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.27 | IPO8 | Sarah Leigh reviewed gene: IPO8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.27 | IPO8 | Sarah Leigh Publications for gene: IPO8 were set to 34010604; 34010605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.26 | IPO8 | Sarah Leigh Phenotypes for gene: IPO8 were changed from Intellectual disability to VISS syndrome, OMIM:619472; VISS syndrome, MONDO:0859177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.25 | IPO8 | Sarah Leigh Publications for gene: IPO8 were set to PMID 34010604; 34010605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.24 | IPO8 | Sarah Leigh Classified gene: IPO8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.24 | IPO8 | Sarah Leigh Gene: ipo8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.2 | CIAO1 | Sarah Leigh edited their review of gene: CIAO1: Added comment: CIAO1 has been rated as amber on this panel (Arthrogryposis) as the contractures reported in PMID: 38950322 are limited to Achilles tendon. If further evidence is published, a green rating will be recommended for CIAO1 on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.2 | CIAO1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: CIAO1. Tag Q3_24_NHS_review was removed from gene: CIAO1. |
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| Arthrogryposis v7.2 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.2 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder |
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| Congenital myaesthenic syndrome v4.8 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myaesthenic syndrome v4.8 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Congenital myaesthenic syndrome. Sources: Expert Review Amber,Literature Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder |
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| Congenital muscular dystrophy v4.26 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.26 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Congenital muscular dystrophy. Sources: Expert Review Amber,Literature Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder |
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| Congenital myopathy v4.40 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.40 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Congenital myopathy. Sources: Expert Review Amber,Literature Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder |
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| Intellectual disability v7.23 | CTNND2 | Arina Puzriakova Classified gene: CTNND2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.23 | CTNND2 |
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber following discussion with the Genomics England clinical team. There are multiple papers and cases in decipher of patients with intragenic deletions in CTNND2; however, almost all have mild or borderline ID (often isolated). Some variants are inherited from parents with mildly low/normal IQ. Deletion size is thought to correlate with severity of mental impairment. Rationale for upgrading to Amber, is that smaller intragenic deletions in CTNND2 would not be picked up the region that encompasses this gene (ISCA-37390-Loss) as they fall below the 60% overlap threshold. However, mild ID is not within the scope of the panel and the only cases with SNVs have a slightly different phenotype (myoclonus, but they were missense and could be acting in a different mechanism). This gene has recently been signed off for GMS use via the DDG2P panel (v4.8) meaning it will be applied to any patients referred under the R27 Paediatric disorders super panel. |
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| Intellectual disability v7.23 | CTNND2 | Arina Puzriakova Gene: ctnnd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | RBP3 | Dmitrijs Rots changed review comment from: Fresh evidence or IRD & high myopia in 37806543; to: Fresh evidence of IRD & high myopia in 37806543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | RBP3 | Dmitrijs Rots reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37806543; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.8 | CCNK | Jana Jezkova reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37597256, 35063350, 30122539; Phenotypes: developmental delay, intellectual disability, facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.2 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.1 | PCSK9 | Sarah Leigh edited their review of gene: PCSK9: Added comment: Monoallelic mode of inheritance is appropriate for PCSK9, as there is only one published report of biallelic PCSK9 in a patient with familial hypercholesterolemia (FH) (PMID: 26541928). In this case, the patient did not exhibit the features of homozygous FH and her clinical features were similar to her heterozygous parents (personal communication from: Mafalda Bourbon, Department of Health Promotion & Prevention of Non-Transmissive Diseases, National Institute of Health Doutor Ricardo Jorge, Portugal).; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.188 | MYBBP1A |
Sarah Graham gene: MYBBP1A was added gene: MYBBP1A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBBP1A were set to 39191491; 28425981 Review for gene: MYBBP1A was set to GREEN Added comment: Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981). Sources: Literature |
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| Fetal anomalies v4.188 | AIMP1 | Natalie Bibb edited their review of gene: AIMP1: Changed publications to: 30486714, 32531460, 24958424, 33402283, 26173967, 21092922, 30477741; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.187 | TTI2 | Achchuthan Shanmugasundram Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.186 | TSHR | Achchuthan Shanmugasundram Phenotypes for gene: TSHR were changed from HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 to Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.185 | SLC5A5 | Achchuthan Shanmugasundram Publications for gene: SLC5A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.184 | SLC5A5 | Achchuthan Shanmugasundram Phenotypes for gene: SLC5A5 were changed from THYROID HORMONOGENESIS DEFECT I to Thyroid dyshormonogenesis 1, OMIM:274400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.183 | KCNQ1 | Achchuthan Shanmugasundram Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, OMIM:192500; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, OMIM:192500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.182 | ITPR1 | Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome to Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360; Spinocerebellar ataxia 15, OMIM:606658; Gillespie syndrome, OMIM:206700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.181 | FRMPD4 | Achchuthan Shanmugasundram Phenotypes for gene: FRMPD4 were changed from Intellectual Disability; Intellectual Disability, X-linked 104, OMIM:300983 to Intellectual Disability, X-linked 104, OMIM:300983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.180 | DEAF1 | Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Autism, intellectual disability, basal ganglia dysfunction and epilepsy to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Vulto-van Silfout-de Vries syndrome, OMIM:615828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.179 | DDX6 | Achchuthan Shanmugasundram Phenotypes for gene: DDX6 were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 to Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.178 | COL25A1 | Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; Arthrogryposis multiplex congenita, MONDO:0015168 to Arthrogryposis multiplex congenita, MONDO:0015168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.177 | CLMP | Achchuthan Shanmugasundram Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME; Congenital short bowel syndrome, OMIM:615237 to Congenital short bowel syndrome, OMIM:615237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.176 | AUTS2 | Achchuthan Shanmugasundram Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, OMIM:615834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.175 | ATP6V1B2 | Achchuthan Shanmugasundram Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 to Zimmermann-Laband syndrome 2, OMIM:616455; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.174 | AIMP1 | Achchuthan Shanmugasundram Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600; LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.173 | ACSL4 | Achchuthan Shanmugasundram Phenotypes for gene: ACSL4 were changed from Mental retardation, X-linked 63 , OMIM:300387; ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , OMIM:300387 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.172 | ZFPM2 | Achchuthan Shanmugasundram Publications for gene: ZFPM2 were set to 24702427 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.171 | ZFPM2 | Achchuthan Shanmugasundram Phenotypes for gene: ZFPM2 were changed from Diaphragmatic hernia 3, OMIM:610187 to Diaphragmatic hernia 3, OMIM:610187; Tetralogy of Fallot, OMIM:187500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.170 | YAP1 | Achchuthan Shanmugasundram Phenotypes for gene: YAP1 were changed from Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.169 | UNC13D | Achchuthan Shanmugasundram Publications for gene: UNC13D were set to 33249554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.168 | UNC13D | Achchuthan Shanmugasundram Phenotypes for gene: UNC13D were changed from Pancytopenia; ?Hydrops fetalis to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.167 | TRIO | Achchuthan Shanmugasundram Phenotypes for gene: TRIO were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 to Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.166 | TRAPPC11 | Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.165 | TRAPPC11 | Achchuthan Shanmugasundram Publications for gene: TRAPPC11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.164 | TBX22 | Achchuthan Shanmugasundram Phenotypes for gene: TBX22 were changed from Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400; ?Abruzzo-Erickson syndrome, 302905; CLEFT PALATE, X-LINKED to Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.163 | SNAP29 | Achchuthan Shanmugasundram Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.162 | SNAP29 | Achchuthan Shanmugasundram Publications for gene: SNAP29 were set to 15968592; 21073448; 28388629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.161 | SLC4A1 | Achchuthan Shanmugasundram Phenotypes for gene: SLC4A1 were changed from RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR; Ovalocytosis, SA type, OMIM:166900 to Ovalocytosis, SA type, OMIM:166900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.160 | SLC25A26 | Achchuthan Shanmugasundram Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Combined oxidative phosphorylation deficiency 28, OMIM:616794 to Combined oxidative phosphorylation deficiency 28, OMIM:616794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.159 | RIN2 | Achchuthan Shanmugasundram Publications for gene: RIN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.158 | RIN2 | Achchuthan Shanmugasundram Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.157 | RAD51C | Achchuthan Shanmugasundram Phenotypes for gene: RAD51C were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP 0 to Fanconi anemia, complementation group O, OMIM:613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.156 | RAD51C | Achchuthan Shanmugasundram Publications for gene: RAD51C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.155 | RAB11B | Achchuthan Shanmugasundram Phenotypes for gene: RAB11B were changed from INTELLECTUAL DISABILITY; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.154 | QARS | Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.153 | QARS | Achchuthan Shanmugasundram Publications for gene: QARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.152 | POLD1 | Achchuthan Shanmugasundram Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.151 | PLOD3 | Achchuthan Shanmugasundram Publications for gene: PLOD3 were set to 18834968; 33743358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.150 | PLAA | Achchuthan Shanmugasundram Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.149 | PLAA | Achchuthan Shanmugasundram Publications for gene: PLAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.148 | NOVA2 | Achchuthan Shanmugasundram Phenotypes for gene: NOVA2 were changed from Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.147 | NAA15 | Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.146 | MYBPC3 | Achchuthan Shanmugasundram Phenotypes for gene: MYBPC3 were changed from ?Congenital myopathy; Cardiomyopathy; Cardiomyopathy, hypertrophic, 4, OMIM:115197 to Cardiomyopathy, hypertrophic, 4, OMIM:115197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.145 | MPZ | Achchuthan Shanmugasundram Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease, type 2I 607677; Roussy-Levy syndrome 180800; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Charcot-Marie-Tooth disease, type 1B 118200; Neuropathy, congenital hypomyelinating 605253; Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Charcot-Marie-Tooth disease, type 2J 607736 to Hypomyelinating neuropathy, congenital, 2, OMIM:618184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.144 | MITF | Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470 to COMMAD syndrome, OMIM:617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.143 | MITF | Achchuthan Shanmugasundram Publications for gene: MITF were set to 27889061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.142 | MGAT2 | Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066 to Congenital disorder of glycosylation, type IIa, OMIM:212066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.141 | MGAT2 | Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A to Congenital disorder of glycosylation, type Iia, OMIM:212066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.140 | MED17 | Achchuthan Shanmugasundram Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.139 | MED17 | Achchuthan Shanmugasundram Publications for gene: MED17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.138 | MAMLD1 | Achchuthan Shanmugasundram Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2, OMIM:300758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.137 | MAMLD1 | Achchuthan Shanmugasundram Publications for gene: MAMLD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.136 | KDM1A | Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.135 | KCNH1 | Achchuthan Shanmugasundram Phenotypes for gene: KCNH1 were changed from Zimmermann-Laband syndrome 1, OMIM:135500; TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.134 | HIST1H4C | Achchuthan Shanmugasundram Phenotypes for gene: HIST1H4C were changed from HIST1H4C; Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.133 | GLMN | Achchuthan Shanmugasundram Phenotypes for gene: GLMN were changed from Glomulovenous malformations, OMIM:138000; GLOMUVENOUS MALFORMATIONS to Glomulovenous malformations, OMIM:138000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.132 | GABRB2 | Achchuthan Shanmugasundram Phenotypes for gene: GABRB2 were changed from Developmental and epileptic encephalopathy 92, OMIM:617829; Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92, OMIM:617829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.131 | FGF9 | Achchuthan Shanmugasundram Phenotypes for gene: FGF9 were changed from Multiple synostoses syndrome 3, OMIM:612961; MULTIPLE SYNOSTOSES SYNDROME TYPE 3 to Multiple synostoses syndrome 3, OMIM:612961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.130 | EMC1 | Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.129 | DOCK7 | Achchuthan Shanmugasundram Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23, OMIM:615859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.128 | DOCK7 | Achchuthan Shanmugasundram Publications for gene: DOCK7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.127 | DNAJC19 | Achchuthan Shanmugasundram Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V 610198 to 3-methylglutaconic aciduria, type V, OMIM:610198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.126 | DNAJC19 | Achchuthan Shanmugasundram Publications for gene: DNAJC19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.125 | CTDP1 | Achchuthan Shanmugasundram Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.124 | CTDP1 | Achchuthan Shanmugasundram Publications for gene: CTDP1 were set to 24690360; 14517542; 20301787; 29174527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.123 | CPAMD8 | Achchuthan Shanmugasundram Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, OMIM:617319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.122 | CPAMD8 | Achchuthan Shanmugasundram Publications for gene: CPAMD8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.121 | COLGALT1 | Achchuthan Shanmugasundram Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3, MIM# 618360 to Brain small vessel disease 3, OMIM:618360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.120 | CELSR1 | Achchuthan Shanmugasundram Publications for gene: CELSR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.119 | CAPN15 | Achchuthan Shanmugasundram Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; microphthalmia HP:0000568; coloboma HP:0000589 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.118 | CACNA1D | Achchuthan Shanmugasundram Publications for gene: CACNA1D were set to 32410215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.117 | CACNA1A | Achchuthan Shanmugasundram Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, OMIM:617106; EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 42, OMIM:617106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.116 | ATP1A3 | Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; RAPID-ONSET DYSTONIA-PARKINSONISM; Developmental and epileptic encephalopathy 99, OMIM:619606; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, OMIM:619606; Polymicrogyria | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.115 | ASXL2 | Achchuthan Shanmugasundram Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features; Shashi-Pena syndrome, OMIM:617190 to Shashi-Pena syndrome, OMIM:617190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.114 | AP4M1 | Achchuthan Shanmugasundram Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, OMIM:612936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.113 | AP4M1 | Achchuthan Shanmugasundram Publications for gene: AP4M1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.112 | AGT | Achchuthan Shanmugasundram Publications for gene: AGT were set to 28976722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.111 | ACVR1 | Achchuthan Shanmugasundram Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; Fibrodysplasia ossificans progressiva, OMIM:135100 to Fibrodysplasia ossificans progressiva, OMIM:135100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.110 | AARS | Achchuthan Shanmugasundram Publications for gene: AARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.109 | ZNF699 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF699. Tag Q3_24_NHS_review tag was added to gene: ZNF699. |
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| Fetal anomalies v4.109 | ZNF526 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF526. Tag Q3_24_NHS_review tag was added to gene: ZNF526. |
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| Fetal anomalies v4.109 | ZNF462 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF462. Tag Q3_24_NHS_review tag was added to gene: ZNF462. |
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| Fetal anomalies v4.109 | ZNF335 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF335. Tag Q3_24_NHS_review tag was added to gene: ZNF335. |
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| Fetal anomalies v4.109 | ZMYM2 | Achchuthan Shanmugasundram Publications for gene: ZMYM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.108 | ZMYM2 | Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ZMYM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.108 | ZMYM2 | Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: ZMYM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.108 | ZMIZ1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZMIZ1. Tag Q3_24_NHS_review tag was added to gene: ZMIZ1. |
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| Fetal anomalies v4.108 | WWOX | Achchuthan Shanmugasundram Phenotypes for gene: WWOX were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 28, OMIM:616211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.107 | WWOX | Achchuthan Shanmugasundram Publications for gene: WWOX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.106 | WWOX |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WWOX. Tag Q3_24_NHS_review tag was added to gene: WWOX. |
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| Fetal anomalies v4.106 | WDR4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR4. Tag Q3_24_NHS_review tag was added to gene: WDR4. |
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| Fetal anomalies v4.106 | WDR37 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR37. Tag Q3_24_NHS_review tag was added to gene: WDR37. |
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| Fetal anomalies v4.106 | VPS4A | Achchuthan Shanmugasundram edited their review of gene: VPS4A: Changed phenotypes to: CIMDAG syndrome, MIM #619273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.106 | VPS4A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: VPS4A. Tag Q3_24_NHS_review tag was added to gene: VPS4A. |
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| Fetal anomalies v4.106 | UBA2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: UBA2. Tag Q3_24_NHS_review tag was added to gene: UBA2. |
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| Fetal anomalies v4.106 | TSEN15 | Achchuthan Shanmugasundram Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F, OMIM:617026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.105 | TSEN15 | Achchuthan Shanmugasundram Publications for gene: TSEN15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.104 | TSEN15 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TSEN15. Tag Q3_24_NHS_review tag was added to gene: TSEN15. |
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| Fetal anomalies v4.104 | TRRAP | Achchuthan Shanmugasundram Phenotypes for gene: TRRAP were changed from multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454 to Developmental delay with or without dysmorphic facies and autism, OMIM:618454; multiple congenital anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.103 | TRRAP |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRRAP. Tag Q3_24_NHS_review tag was added to gene: TRRAP. |
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| Fetal anomalies v4.103 | TRIM71 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRIM71. Tag Q3_24_NHS_review tag was added to gene: TRIM71. |
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| Fetal anomalies v4.103 | TP73 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TP73. Tag Q3_24_NHS_review tag was added to gene: TP73. |
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| Fetal anomalies v4.103 | TOR1AIP1 | Achchuthan Shanmugasundram Phenotypes for gene: TOR1AIP1 were changed from congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; congenital myasthenic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.102 | TOR1AIP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TOR1AIP1. Tag Q3_24_NHS_review tag was added to gene: TOR1AIP1. |
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| Fetal anomalies v4.102 | TMTC3 | Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, OMIM:617255 to Lissencephaly 8, OMIM:617255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.102 | TMTC3 | Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Cobblestone Lissencephaly to Lissencephaly 8, OMIM:617255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.101 | TMTC3 | Achchuthan Shanmugasundram Publications for gene: TMTC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.100 | TMTC3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMTC3. Tag Q3_24_NHS_review tag was added to gene: TMTC3. |
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| Fetal anomalies v4.100 | TMEM218 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMEM218. Tag Q3_24_NHS_review tag was added to gene: TMEM218. |
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| Fetal anomalies v4.100 | THOC2 | Achchuthan Shanmugasundram edited their review of gene: THOC2: Changed phenotypes to: Mental retardation, X-linked 12/35, MIM #300957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.100 | THOC2 | Achchuthan Shanmugasundram Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Intellectual developmental disorder, X-linked 12, OMIM:300957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.99 | THOC2 | Achchuthan Shanmugasundram Publications for gene: THOC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.98 | THOC2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: THOC2. Tag Q3_24_NHS_review tag was added to gene: THOC2. |
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| Fetal anomalies v4.98 | STT3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STT3A. Tag Q3_24_NHS_review tag was added to gene: STT3A. |
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| Fetal anomalies v4.98 | SPTB |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPTB. Tag Q3_24_NHS_review tag was added to gene: SPTB. |
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| Fetal anomalies v4.98 | SPINT2 | Achchuthan Shanmugasundram Phenotypes for gene: SPINT2 were changed from congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; congenital secretory sodium diarrhea 3, MONDO:0010036 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.97 | SPINT2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPINT2. Tag Q3_24_NHS_review tag was added to gene: SPINT2. |
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| Fetal anomalies v4.97 | SPEN |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPEN. Tag Q3_24_NHS_review tag was added to gene: SPEN. |
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| Fetal anomalies v4.97 | SOX11 | Achchuthan Shanmugasundram Phenotypes for gene: SOX11 were changed from Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866; MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.96 | SOX11 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX11. Tag Q3_24_NHS_review tag was added to gene: SOX11. |
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| Fetal anomalies v4.96 | SMARCD1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMARCD1. Tag Q3_24_NHS_review tag was added to gene: SMARCD1. |
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| Fetal anomalies v4.96 | SMAD2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMAD2. Tag Q3_24_NHS_review tag was added to gene: SMAD2. |
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| Fetal anomalies v4.96 | SKIV2L | Achchuthan Shanmugasundram Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, OMIM:614602; TRICHOHEPATOENTERIC SYNDROME 2 to Trichohepatoenteric syndrome 2, OMIM:614602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.95 | SKIV2L |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SKIV2L. Tag Q3_24_NHS_review tag was added to gene: SKIV2L. |
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| Fetal anomalies v4.95 | SIN3A | Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.94 | SIN3A | Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY; Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.93 | SIN3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SIN3A. Tag Q3_24_NHS_review tag was added to gene: SIN3A. |
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| Fetal anomalies v4.93 | SHMT2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SHMT2. Tag Q3_24_NHS_review tag was added to gene: SHMT2. |
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| Fetal anomalies v4.93 | SEMA3A | Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies to {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897; congenital heart disease; skeletal anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.92 | SEMA3A | Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease to {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.91 | SEMA3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SEMA3A. Tag Q3_24_NHS_review tag was added to gene: SEMA3A. |
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| Fetal anomalies v4.91 | SCN5A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN5A. Tag Q3_24_NHS_review tag was added to gene: SCN5A. |
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| Fetal anomalies v4.91 | SCN3A | Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.90 | SCN3A | Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Focal epilepsy; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.89 | SCN3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN3A. Tag Q3_24_NHS_review tag was added to gene: SCN3A. |
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| Fetal anomalies v4.89 | SCAF4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCAF4. Tag Q3_24_NHS_review tag was added to gene: SCAF4. |
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| Fetal anomalies v4.89 | RPL15 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RPL15. Tag Q3_24_NHS_review tag was added to gene: RPL15. |
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| Fetal anomalies v4.89 | RNU12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNU12. Tag Q3_24_NHS_review tag was added to gene: RNU12. |
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| Fetal anomalies v4.89 | RNF125 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF125. Tag Q3_24_NHS_review tag was added to gene: RNF125. |
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| Fetal anomalies v4.89 | RNF113A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF113A. Tag Q3_24_NHS_review tag was added to gene: RNF113A. |
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| Fetal anomalies v4.89 | RLIM | Achchuthan Shanmugasundram Phenotypes for gene: RLIM were changed from Tonne-Kalscheuer syndrome, OMIM:300978; INTELLECTUAL DISABILITY to Tonne-Kalscheuer syndrome, OMIM:300978 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.88 | RLIM |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RLIM. Tag Q3_24_NHS_review tag was added to gene: RLIM. |
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| Fetal anomalies v4.88 | RBP4 | Achchuthan Shanmugasundram edited their review of gene: RBP4: Changed phenotypes to: Microphthalmia, isolated, with coloboma 10, OMIM:616428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.88 | RBP4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBP4. Tag Q3_24_NHS_review tag was added to gene: RBP4. |
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| Fetal anomalies v4.88 | RAD51 | Achchuthan Shanmugasundram Phenotypes for gene: RAD51 were changed from Fanconi anaemia, complementation group R, MIM# 617244; MIRROR MOVEMENTS 2 to Fanconi anaemia, complementation group R, OMIM:617244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.87 | RAD51 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD51. Tag Q3_24_NHS_review tag was added to gene: RAD51. |
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| Fetal anomalies v4.87 | RAD50 | Achchuthan Shanmugasundram Phenotypes for gene: RAD50 were changed from MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078; MONDO:0013118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.86 | RAD50 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD50. Tag Q3_24_NHS_review tag was added to gene: RAD50. |
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| Fetal anomalies v4.86 | PXDN | Achchuthan Shanmugasundram Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.85 | PXDN | Achchuthan Shanmugasundram Publications for gene: PXDN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.84 | PXDN |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PXDN. Tag Q3_24_NHS_review tag was added to gene: PXDN. |
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| Intellectual disability v7.22 | IPO8 |
Nour Elkhateeb changed review comment from: Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605). Sources: Literature; to: Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605). Sources: Literature |
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| Intellectual disability v7.22 | IPO8 |
Nour Elkhateeb gene: IPO8 was added gene: IPO8 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IPO8 were set to PMID 34010604; 34010605 Phenotypes for gene: IPO8 were set to Intellectual disability Penetrance for gene: IPO8 were set to unknown Added comment: Intellectual disability is reported in some affected individuals with IPO8-related VISS syndrome (PMID 34010604, 34010605). Sources: Literature |
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| Fetal anomalies v4.84 | PTPN23 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTPN23. Tag Q3_24_NHS_review tag was added to gene: PTPN23. |
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| Fetal anomalies v4.84 | PRR12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRR12. Tag Q3_24_NHS_review tag was added to gene: PRR12. |
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| Fetal anomalies v4.84 | PRF1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRF1. Tag Q3_24_NHS_review tag was added to gene: PRF1. |
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| Fetal anomalies v4.84 | PPP3CA | Achchuthan Shanmugasundram Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.83 | PPP3CA |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP3CA. Tag Q3_24_NHS_review tag was added to gene: PPP3CA. |
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| Fetal anomalies v4.83 | PPP2R3C |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2R3C. Tag Q3_24_NHS_review tag was added to gene: PPP2R3C. |
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| Fetal anomalies v4.83 | PPP2CA |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2CA. Tag Q3_24_NHS_review tag was added to gene: PPP2CA. |
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| Fetal anomalies v4.83 | PPIL1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPIL1. Tag Q3_24_NHS_review tag was added to gene: PPIL1. |
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| Fetal anomalies v4.83 | PLPBP | Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.82 | PLPBP | Achchuthan Shanmugasundram Publications for gene: PLPBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.81 | PLPBP |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLPBP. Tag Q3_24_NHS_review tag was added to gene: PLPBP. |
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| Fetal anomalies v4.81 | PLEC |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLEC. Tag Q3_24_NHS_review tag was added to gene: PLEC. |
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| Fetal anomalies v4.81 | PIGH |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIGH. Tag Q3_24_NHS_review tag was added to gene: PIGH. |
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| Fetal anomalies v4.81 | PIDD1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIDD1. Tag Q3_24_NHS_review tag was added to gene: PIDD1. |
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| Fetal anomalies v4.81 | PHF21A | Achchuthan Shanmugasundram Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.80 | PHF21A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHF21A. Tag Q3_24_NHS_review tag was added to gene: PHF21A. |
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| Fetal anomalies v4.80 | PGAP1 | Achchuthan Shanmugasundram Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.79 | PGAP1 | Achchuthan Shanmugasundram Publications for gene: PGAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.78 | PGAP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PGAP1. Tag Q3_24_NHS_review tag was added to gene: PGAP1. |
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| Fetal anomalies v4.78 | PDE3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDE3A. Tag Q3_24_NHS_review tag was added to gene: PDE3A. |
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| Fetal anomalies v4.78 | PCDH12 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PCDH12. Tag Q3_24_NHS_review tag was added to gene: PCDH12. |
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| Fetal anomalies v4.78 | PAX1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PAX1. Tag Q3_24_NHS_review tag was added to gene: PAX1. |
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| Fetal anomalies v4.78 | PACS2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS2. Tag Q3_24_NHS_review tag was added to gene: PACS2. |
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| Fetal anomalies v4.78 | PACS1 | Achchuthan Shanmugasundram Phenotypes for gene: PACS1 were changed from Schuurs-Hoeijmakers syndrome, OMIM:615009; INTELLECTUAL DISABILITY to Schuurs-Hoeijmakers syndrome, OMIM:615009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.77 | PACS1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS1. Tag Q3_24_NHS_review tag was added to gene: PACS1. |
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| Fetal anomalies v4.77 | OTUD6B | Achchuthan Shanmugasundram Publications for gene: OTUD6B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.76 | OTUD6B | Achchuthan Shanmugasundram Phenotypes for gene: OTUD6B were changed from Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.75 | OTUD6B |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: OTUD6B. Tag Q3_24_NHS_review tag was added to gene: OTUD6B. |
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| Fetal anomalies v4.75 | NUP188 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUP188. Tag Q3_24_NHS_review tag was added to gene: NUP188. |
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| Fetal anomalies v4.75 | NSRP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NSRP1. Tag Q3_24_NHS_review tag was added to gene: NSRP1. |
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| Fetal anomalies v4.75 | NONO | Achchuthan Shanmugasundram Phenotypes for gene: NONO were changed from Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Ebstein’s anomaly; Ventricular septal defect (VSD); Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967; Atresia to Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.74 | NONO |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NONO. Tag Q3_24_NHS_review tag was added to gene: NONO. |
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| Fetal anomalies v4.74 | NFIB |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIB. Tag Q3_24_NHS_review tag was added to gene: NFIB. |
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| Fetal anomalies v4.74 | NFIA |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIA. Tag Q3_24_NHS_review tag was added to gene: NFIA. |
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| Fetal anomalies v4.74 | MYOD1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MYOD1. Tag Q3_24_NHS_review tag was added to gene: MYOD1. |
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| Fetal anomalies v4.74 | MPDZ |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MPDZ. Tag Q3_24_NHS_review tag was added to gene: MPDZ. |
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| Fetal anomalies v4.74 | MINPP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MINPP1. Tag Q3_24_NHS_review tag was added to gene: MINPP1. |
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| Fetal anomalies v4.74 | MED27 | Achchuthan Shanmugasundram Phenotypes for gene: MED27 were changed from Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.73 | MED27 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED27. Tag Q3_24_NHS_review tag was added to gene: MED27. |
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| Fetal anomalies v4.73 | MED25 | Achchuthan Shanmugasundram Phenotypes for gene: MED25 were changed from Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 to Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.72 | MED25 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED25. Tag Q3_24_NHS_review tag was added to gene: MED25. |
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| Fetal anomalies v4.72 | MCIDAS |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MCIDAS. Tag Q3_24_NHS_review tag was added to gene: MCIDAS. |
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| Fetal anomalies v4.72 | MAPKAPK5 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5. Tag Q3_24_NHS_review tag was added to gene: MAPKAPK5. |
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| Fetal anomalies v4.72 | MAN2C1 | Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, MIM# 619775 to Congenital disorder of deglycosylation 2, OMIM:619775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.71 | MAN2C1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAN2C1. Tag Q3_24_NHS_review tag was added to gene: MAN2C1. |
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| Fetal anomalies v4.71 | MAB21L1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAB21L1. Tag Q3_24_NHS_review tag was added to gene: MAB21L1. |
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| Fetal anomalies v4.71 | LTBP1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LTBP1. Tag Q3_24_NHS_review tag was added to gene: LTBP1. |
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| Fetal anomalies v4.71 | KIF4A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIF4A. Tag Q3_24_NHS_review tag was added to gene: KIF4A. |
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| Fetal anomalies v4.71 | KIDINS220 | Achchuthan Shanmugasundram Phenotypes for gene: KIDINS220 were changed from Ventriculomegaly and arthrogryposis, OMIM:619501 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; cerebral ventriculomegaly; limb contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.70 | KIDINS220 | Achchuthan Shanmugasundram Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.69 | KIDINS220 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIDINS220. Tag Q3_24_NHS_review tag was added to gene: KIDINS220. |
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| Fetal anomalies v4.69 | JAM3 | Achchuthan Shanmugasundram Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.68 | JAM3 | Achchuthan Shanmugasundram Publications for gene: JAM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.67 | JAM3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: JAM3. Tag Q3_24_NHS_review tag was added to gene: JAM3. |
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| Fetal anomalies v4.67 | IRX5 | Achchuthan Shanmugasundram Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, OMIM:611174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.66 | IRX5 | Achchuthan Shanmugasundram Publications for gene: IRX5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.65 | IRX5 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IRX5. Tag Q3_24_NHS_review tag was added to gene: IRX5. |
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| Fetal anomalies v4.65 | INTS1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: INTS1. Tag Q3_24_NHS_review tag was added to gene: INTS1. |
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| Fetal anomalies v4.65 | IFT74 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IFT74. Tag Q3_24_NHS_review tag was added to gene: IFT74. |
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| Fetal anomalies v4.65 | HYAL2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HYAL2. Tag Q3_24_NHS_review tag was added to gene: HYAL2. |
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| Fetal anomalies v4.65 | HSPA9 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HSPA9. Tag Q3_24_NHS_review tag was added to gene: HSPA9. |
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| Fetal anomalies v4.65 | HS2ST1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HS2ST1. Tag Q3_24_NHS_review tag was added to gene: HS2ST1. |
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| Fetal anomalies v4.65 | HNRNPH2 | Achchuthan Shanmugasundram Phenotypes for gene: HNRNPH2 were changed from Neurodevelopmental Disorder in Females to Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.64 | HNRNPH2 | Achchuthan Shanmugasundram Publications for gene: HNRNPH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.63 | HNRNPH2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HNRNPH2. Tag Q3_24_NHS_review tag was added to gene: HNRNPH2. |
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| Fetal anomalies v4.63 | HMX1 | Achchuthan Shanmugasundram Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, OMIM:612109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.62 | HMX1 | Achchuthan Shanmugasundram Publications for gene: HMX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.61 | HMX1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HMX1. Tag Q3_24_NHS_review tag was added to gene: HMX1. |
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| Fetal anomalies v4.61 | HK1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HK1. Tag Q3_24_NHS_review tag was added to gene: HK1. |
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| Fetal anomalies v4.61 | HHAT |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HHAT. Tag Q3_24_NHS_review tag was added to gene: HHAT. |
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| Fetal anomalies v4.61 | H3F3A | Achchuthan Shanmugasundram Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Craniofacial with neurodevelopment disorders to Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.60 | H3F3A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: H3F3A. Tag Q3_24_NHS_review tag was added to gene: H3F3A. |
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| Fetal anomalies v4.60 | GTPBP2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GTPBP2. Tag Q3_24_NHS_review tag was added to gene: GTPBP2. |
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| Fetal anomalies v4.60 | GRM7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GRM7. Tag Q3_24_NHS_review tag was added to gene: GRM7. |
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| Fetal anomalies v4.60 | GPX4 | Achchuthan Shanmugasundram Publications for gene: GPX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.59 | GPX4 | Achchuthan Shanmugasundram Phenotypes for gene: GPX4 were changed from SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE to Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.58 | GPX4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GPX4. Tag Q3_24_NHS_review tag was added to gene: GPX4. |
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| Fetal anomalies v4.58 | GHR | Achchuthan Shanmugasundram Phenotypes for gene: GHR were changed from Growth hormone insensitivity, partial, OMIM:604271; PITUITARY DWARFISM II; Laron dwarfism, OMIM:262500 to Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.57 | GHR |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GHR. Tag Q3_24_NHS_review tag was added to gene: GHR. |
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| Fetal anomalies v4.57 | GFRA1 | Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to 33020172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.56 | GFRA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GFRA1. Tag Q3_24_NHS_review tag was added to gene: GFRA1. |
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| Fetal anomalies v4.56 | GDF11 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GDF11. Tag Q3_24_NHS_review tag was added to gene: GDF11. |
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| Fetal anomalies v4.56 | GATA1 |
Achchuthan Shanmugasundram Tag Q3_24_expert_review was removed from gene: GATA1. Tag Q3_24_NHS_review tag was added to gene: GATA1. |
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| Fetal anomalies v4.56 | FRA10AC1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1. Tag Q3_24_NHS_review tag was added to gene: FRA10AC1. |
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| Fetal anomalies v4.56 | FOXJ1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOXJ1. Tag Q3_24_NHS_review tag was added to gene: FOXJ1. |
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| Fetal anomalies v4.56 | FBRSL1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FBRSL1. Tag Q3_24_NHS_review tag was added to gene: FBRSL1. |
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| Fetal anomalies v4.56 | FBRSL1 | Achchuthan Shanmugasundram Phenotypes for gene: FBRSL1 were changed from congenital heart defect; Congenital malformations to Congenital heart defect; Congenital malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.55 | FAT1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAT1. Tag Q3_24_NHS_review tag was added to gene: FAT1. |
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| Fetal anomalies v4.55 | FAM149B1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1. Tag Q3_24_NHS_review tag was added to gene: FAM149B1. |
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| Fetal anomalies v4.55 | EXOC7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EXOC7. Tag Q3_24_NHS_review tag was added to gene: EXOC7. |
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| Fetal anomalies v4.55 | ERGIC1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERGIC1. Tag Q3_24_NHS_review tag was added to gene: ERGIC1. |
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| Fetal anomalies v4.55 | ERBB3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERBB3. Tag Q3_24_NHS_review tag was added to gene: ERBB3. |
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| Fetal anomalies v4.55 | EN1 | Achchuthan Shanmugasundram edited their review of gene: EN1: Changed phenotypes to: ENDOVE syndrome, limb-brain type, OMIM:619218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | SAMD9 | Nour Elkhateeb changed review comment from: Evidence in literature of immunodeficiency in several individuals with SAMD9-related MIRAGE syndrome. (PMID: 31620126, 31620126, 28202457, 33423168).; to: Evidence in literature of immunodeficiency in several individuals with SAMD9-related MIRAGE syndrome. (PMID: 31620126, 31620126, 28202457, 33423168). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | SAMD9 | Nour Elkhateeb reviewed gene: SAMD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31620126, 31620126, 28202457, 33423168; Phenotypes: Immunodeficiency, Recurrent infections, Mild decrease in natural killer cell activity, Low CD4-to-CD8 ratio, Mild decrease in neutrophil phagocytic activity; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.55 | EN1 | Achchuthan Shanmugasundram changed review comment from: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.55 | EN1 | Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218 to ENDOVE syndrome, limb-brain type, OMIM:619218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.54 | EN1 | Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218 to ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.53 | EN1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EN1. Tag Q3_24_NHS_review tag was added to gene: EN1. |
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| Fetal anomalies v4.53 | EFEMP2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EFEMP2. Tag Q3_24_NHS_review tag was added to gene: EFEMP2. |
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| Fetal anomalies v4.53 | EEF2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EEF2. Tag Q3_24_NHS_review tag was added to gene: EEF2. |
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| Fetal anomalies v4.53 | DYNC1I2 | Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.52 | DYNC1I2 | Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.51 | DYNC1I2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I2. Tag Q3_24_NHS_review tag was added to gene: DYNC1I2. |
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| Fetal anomalies v4.51 | DYNC1I1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I1. Tag Q3_24_NHS_review tag was added to gene: DYNC1I1. |
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| Fetal anomalies v4.51 | DPF2 | Achchuthan Shanmugasundram Phenotypes for gene: DPF2 were changed from Coffin-Siris syndrome 7, OMIM:618027; Coffin Siris like disorder to Coffin-Siris syndrome 7, OMIM:618027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.50 | DPF2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DPF2. Tag Q3_24_NHS_review tag was added to gene: DPF2. |
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| Fetal anomalies v4.50 | DLL1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DLL1. Tag Q3_24_NHS_review tag was added to gene: DLL1. |
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| Fetal anomalies v4.50 | DEPDC5 | Achchuthan Shanmugasundram Phenotypes for gene: DEPDC5 were changed from Epilepsy; Structural brain malformations to Developmental and epileptic encephalopathy 111, OMIM:620504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.49 | DEPDC5 | Achchuthan Shanmugasundram Publications for gene: DEPDC5 were set to 32848577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.48 | DEPDC5 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DEPDC5. Tag Q3_24_NHS_review tag was added to gene: DEPDC5. |
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| Fetal anomalies v4.48 | DCC | Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.48 | CYBB |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CYBB. Tag Q3_24_NHS_review tag was added to gene: CYBB. |
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| Fetal anomalies v4.48 | CTNNA2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CTNNA2. Tag Q3_24_NHS_review tag was added to gene: CTNNA2. |
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| Fetal anomalies v4.48 | COA7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COA7. Tag Q3_24_NHS_review tag was added to gene: COA7. |
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| Fetal anomalies v4.48 | CLTC |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLTC. Tag Q3_24_NHS_review tag was added to gene: CLTC. |
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| Fetal anomalies v4.48 | CFAP52 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP52. Tag Q3_24_NHS_review tag was added to gene: CFAP52. |
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| Fetal anomalies v4.48 | CFAP45 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP45. Tag Q3_24_NHS_review tag was added to gene: CFAP45. |
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| Fetal anomalies v4.48 | CEP85L |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CEP85L. Tag Q3_23_NHS_review tag was added to gene: CEP85L. |
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| Fetal anomalies v4.48 | CCDC22 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CCDC22. Tag Q3_24_NHS_review tag was added to gene: CCDC22. |
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| Fetal anomalies v4.48 | CCDC22 | Achchuthan Shanmugasundram Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, OMIM:300963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.47 | CCDC22 | Achchuthan Shanmugasundram Publications for gene: CCDC22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.46 | C2orf69 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C2orf69. Tag Q3_24_NHS_review tag was added to gene: C2orf69. |
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| Fetal anomalies v4.46 | C12orf57 | Achchuthan Shanmugasundram Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, OMIM:218340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.45 | C12orf57 | Achchuthan Shanmugasundram Publications for gene: C12orf57 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.44 | C12orf57 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C12orf57. Tag Q3_24_NHS_review tag was added to gene: C12orf57. |
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| Fetal anomalies v4.44 | BRD4 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRD4. Tag Q3_24_NHS_review tag was added to gene: BRD4. |
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| Fetal anomalies v4.44 | BRCA1 | Achchuthan Shanmugasundram Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY; Fanconi anaemia, complementation group S, OMIM:617883 to Fanconi anaemia, complementation group S, OMIM:617883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.43 | BRCA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRCA1. Tag Q3_24_NHS_review tag was added to gene: BRCA1. |
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| Fetal anomalies v4.43 | ATN1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATN1. Tag Q3_24_NHS_review tag was added to gene: ATN1. |
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| Fetal anomalies v4.43 | ATAD1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATAD1. Tag Q3_24_NHS_review tag was added to gene: ATAD1. |
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| Fetal anomalies v4.43 | ARL3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARL3. Tag Q3_24_NHS_review tag was added to gene: ARL3. |
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| Fetal anomalies v4.43 | ARID2 | Achchuthan Shanmugasundram Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder; Coffin-Siris syndrome 6, OMIM:617808 to Coffin-Siris syndrome 6, OMIM:617808 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.42 | ARID2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARID2. Tag Q3_24_NHS_review tag was added to gene: ARID2. |
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| Fetal anomalies v4.42 | APC2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: APC2. Tag Q3_24_NHS_review tag was added to gene: APC2. |
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| Fetal anomalies v4.42 | AP4S1 | Achchuthan Shanmugasundram Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, OMIM:614067 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.41 | AP4S1 | Achchuthan Shanmugasundram Publications for gene: AP4S1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.40 | AP4S1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4S1. Tag Q3_24_NHS_review tag was added to gene: AP4S1. |
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| Fetal anomalies v4.40 | AP4B1 | Achchuthan Shanmugasundram Publications for gene: AP4B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.39 | AP4B1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4B1. Tag Q3_24_NHS_review tag was added to gene: AP4B1. |
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| Fetal anomalies v4.39 | ANGPT2 | Achchuthan Shanmugasundram Phenotypes for gene: ANGPT2 were changed from hydrops fetalis, MONDO:0015193; Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to hydrops fetalis, MONDO:0015193; Lymphatic malformation 10, OMIM:619369; lymphatic malformation 10, MONDO:0023662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.38 | ANGPT2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ANGPT2. Tag Q3_24_NHS_review tag was added to gene: ANGPT2. |
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| Fetal anomalies v4.38 | ALPK3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALPK3. Tag Q3_24_NHS_review tag was added to gene: ALPK3. |
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| Fetal anomalies v4.38 | ALG14 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALG14. Tag Q3_24_NHS_review tag was added to gene: ALG14. |
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| Fetal anomalies v4.38 | ALDH1A2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALDH1A2. Tag Q3_24_NHS_review tag was added to gene: ALDH1A2. |
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| Fetal anomalies v4.38 | AFF3 | Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297 to KINSSHIP syndrome, OMIM:619297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.37 | AFF3 | Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297; Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, OMIM:619297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AFF3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AFF3. Tag Q3_24_NHS_review tag was added to gene: AFF3. |
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| Fetal anomalies v4.36 | ADCY6 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ADCY6. Tag Q3_24_NHS_review tag was added to gene: ADCY6. |
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| Fetal anomalies v4.36 | ACVRL1 | Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ACVRL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ACVRL1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ACVRL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZNHIT3 | Achchuthan Shanmugasundram commented on gene: ZNHIT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZNF699 | Achchuthan Shanmugasundram commented on gene: ZNF699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZNF526 | Achchuthan Shanmugasundram commented on gene: ZNF526 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZNF462 | Achchuthan Shanmugasundram commented on gene: ZNF462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZNF335 | Achchuthan Shanmugasundram commented on gene: ZNF335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZMYM2 | Achchuthan Shanmugasundram commented on gene: ZMYM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZMIZ1 | Achchuthan Shanmugasundram commented on gene: ZMIZ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZFPM2 | Achchuthan Shanmugasundram commented on gene: ZFPM2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ZBTB24 | Achchuthan Shanmugasundram commented on gene: ZBTB24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | YRDC | Achchuthan Shanmugasundram commented on gene: YRDC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | YIPF5 | Achchuthan Shanmugasundram commented on gene: YIPF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | YIF1B | Achchuthan Shanmugasundram commented on gene: YIF1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | YAP1 | Achchuthan Shanmugasundram commented on gene: YAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | WWOX | Achchuthan Shanmugasundram commented on gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | WDR4 | Achchuthan Shanmugasundram commented on gene: WDR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | WDR37 | Achchuthan Shanmugasundram commented on gene: WDR37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | VPS4A | Achchuthan Shanmugasundram commented on gene: VPS4A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | UNC13D | Achchuthan Shanmugasundram commented on gene: UNC13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | UBR7 | Achchuthan Shanmugasundram commented on gene: UBR7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | UBA2 | Achchuthan Shanmugasundram commented on gene: UBA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TUBGCP2 | Achchuthan Shanmugasundram commented on gene: TUBGCP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TTI2 | Achchuthan Shanmugasundram commented on gene: TTI2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TSHR | Achchuthan Shanmugasundram commented on gene: TSHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TSEN15 | Achchuthan Shanmugasundram commented on gene: TSEN15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TRRAP | Achchuthan Shanmugasundram commented on gene: TRRAP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TRNT1 | Achchuthan Shanmugasundram commented on gene: TRNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TRIO | Achchuthan Shanmugasundram commented on gene: TRIO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TRIM71 | Achchuthan Shanmugasundram commented on gene: TRIM71 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TRAPPC11 | Achchuthan Shanmugasundram commented on gene: TRAPPC11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TPO | Achchuthan Shanmugasundram commented on gene: TPO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TP73 | Achchuthan Shanmugasundram commented on gene: TP73 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TOR1AIP1 | Achchuthan Shanmugasundram commented on gene: TOR1AIP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TOP2B | Achchuthan Shanmugasundram commented on gene: TOP2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TNFRSF11A | Achchuthan Shanmugasundram commented on gene: TNFRSF11A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TMTC3 | Achchuthan Shanmugasundram commented on gene: TMTC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TMEM218 | Achchuthan Shanmugasundram commented on gene: TMEM218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TLL1 | Achchuthan Shanmugasundram commented on gene: TLL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TLK2 | Achchuthan Shanmugasundram commented on gene: TLK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | THOC2 | Achchuthan Shanmugasundram commented on gene: THOC2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TG | Achchuthan Shanmugasundram commented on gene: TG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TBX22 | Achchuthan Shanmugasundram commented on gene: TBX22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TBC1D1 | Achchuthan Shanmugasundram commented on gene: TBC1D1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | TAOK1 | Achchuthan Shanmugasundram commented on gene: TAOK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SZT2 | Achchuthan Shanmugasundram commented on gene: SZT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SYT2 | Achchuthan Shanmugasundram commented on gene: SYT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | STT3B | Achchuthan Shanmugasundram commented on gene: STT3B: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | STT3A | Achchuthan Shanmugasundram commented on gene: STT3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | STK4 | Achchuthan Shanmugasundram commented on gene: STK4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | STIM1 | Achchuthan Shanmugasundram commented on gene: STIM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | STAT3 | Achchuthan Shanmugasundram commented on gene: STAT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SPTB | Achchuthan Shanmugasundram commented on gene: SPTB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SPTA1 | Achchuthan Shanmugasundram commented on gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SPRED2 | Achchuthan Shanmugasundram commented on gene: SPRED2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SPINT2 | Achchuthan Shanmugasundram commented on gene: SPINT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SPEN | Achchuthan Shanmugasundram commented on gene: SPEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SOX11 | Achchuthan Shanmugasundram commented on gene: SOX11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SNAP29 | Achchuthan Shanmugasundram commented on gene: SNAP29 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SMARCD1 | Achchuthan Shanmugasundram commented on gene: SMARCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SMARCAL1 | Achchuthan Shanmugasundram commented on gene: SMARCAL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SMAD6 | Achchuthan Shanmugasundram commented on gene: SMAD6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SMAD2 | Achchuthan Shanmugasundram commented on gene: SMAD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SLC5A5 | Achchuthan Shanmugasundram commented on gene: SLC5A5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SLC4A1 | Achchuthan Shanmugasundram commented on gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SLC25A26 | Achchuthan Shanmugasundram commented on gene: SLC25A26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SLC22A5 | Achchuthan Shanmugasundram commented on gene: SLC22A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SLC20A1 | Achchuthan Shanmugasundram commented on gene: SLC20A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SKIV2L | Achchuthan Shanmugasundram commented on gene: SKIV2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SIN3A | Achchuthan Shanmugasundram commented on gene: SIN3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SHMT2 | Achchuthan Shanmugasundram commented on gene: SHMT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SF3B2 | Achchuthan Shanmugasundram commented on gene: SF3B2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SERPINA11 | Achchuthan Shanmugasundram commented on gene: SERPINA11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SEMA3A | Achchuthan Shanmugasundram commented on gene: SEMA3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SCNN1G | Achchuthan Shanmugasundram commented on gene: SCNN1G | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SCNN1B | Achchuthan Shanmugasundram commented on gene: SCNN1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SCNN1A | Achchuthan Shanmugasundram commented on gene: SCNN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SCN5A | Achchuthan Shanmugasundram commented on gene: SCN5A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SCN3A | Achchuthan Shanmugasundram commented on gene: SCN3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SCAF4 | Achchuthan Shanmugasundram commented on gene: SCAF4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RPL15 | Achchuthan Shanmugasundram commented on gene: RPL15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RNU12 | Achchuthan Shanmugasundram commented on gene: RNU12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RNF125 | Achchuthan Shanmugasundram commented on gene: RNF125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RNF113A | Achchuthan Shanmugasundram commented on gene: RNF113A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RLIM | Achchuthan Shanmugasundram commented on gene: RLIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RIN2 | Achchuthan Shanmugasundram commented on gene: RIN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RHOA | Achchuthan Shanmugasundram commented on gene: RHOA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RHEB | Achchuthan Shanmugasundram commented on gene: RHEB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RBP4 | Achchuthan Shanmugasundram commented on gene: RBP4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RAP1B | Achchuthan Shanmugasundram commented on gene: RAP1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RAD51C | Achchuthan Shanmugasundram commented on gene: RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RAD51 | Achchuthan Shanmugasundram commented on gene: RAD51 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RAD50 | Achchuthan Shanmugasundram commented on gene: RAD50 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | RAB11B | Achchuthan Shanmugasundram commented on gene: RAB11B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | QARS | Achchuthan Shanmugasundram commented on gene: QARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PXDN | Achchuthan Shanmugasundram commented on gene: PXDN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PTPN23 | Achchuthan Shanmugasundram commented on gene: PTPN23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PRR12 | Achchuthan Shanmugasundram commented on gene: PRR12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PRF1 | Achchuthan Shanmugasundram commented on gene: PRF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PPP3CA | Achchuthan Shanmugasundram commented on gene: PPP3CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PPP2R3C | Achchuthan Shanmugasundram commented on gene: PPP2R3C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PPP2CA | Achchuthan Shanmugasundram commented on gene: PPP2CA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PPP1R13L | Achchuthan Shanmugasundram commented on gene: PPP1R13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PPP1R12A | Achchuthan Shanmugasundram commented on gene: PPP1R12A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PPIL1 | Achchuthan Shanmugasundram commented on gene: PPIL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | POLD1 | Achchuthan Shanmugasundram commented on gene: POLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PLPBP | Achchuthan Shanmugasundram commented on gene: PLPBP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PLOD3 | Achchuthan Shanmugasundram commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PLEC | Achchuthan Shanmugasundram commented on gene: PLEC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PLAA | Achchuthan Shanmugasundram commented on gene: PLAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PKP2 | Achchuthan Shanmugasundram commented on gene: PKP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PIGH | Achchuthan Shanmugasundram commented on gene: PIGH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PIDD1 | Achchuthan Shanmugasundram commented on gene: PIDD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PI4KA | Achchuthan Shanmugasundram commented on gene: PI4KA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PHF21A | Achchuthan Shanmugasundram commented on gene: PHF21A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PHEX | Achchuthan Shanmugasundram commented on gene: PHEX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PGAP1 | Achchuthan Shanmugasundram commented on gene: PGAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PDE6D | Achchuthan Shanmugasundram commented on gene: PDE6D: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PDE3A | Achchuthan Shanmugasundram commented on gene: PDE3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PCDH12 | Achchuthan Shanmugasundram commented on gene: PCDH12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PAX1 | Achchuthan Shanmugasundram commented on gene: PAX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PARP6 | Achchuthan Shanmugasundram commented on gene: PARP6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PAM16 | Achchuthan Shanmugasundram commented on gene: PAM16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PACS2 | Achchuthan Shanmugasundram commented on gene: PACS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PACS1 | Achchuthan Shanmugasundram commented on gene: PACS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | OTUD6B | Achchuthan Shanmugasundram commented on gene: OTUD6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | OTUD5 | Achchuthan Shanmugasundram commented on gene: OTUD5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ORAI1 | Achchuthan Shanmugasundram commented on gene: ORAI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NUP88 | Achchuthan Shanmugasundram commented on gene: NUP88: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NUP188 | Achchuthan Shanmugasundram commented on gene: NUP188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NSRP1 | Achchuthan Shanmugasundram commented on gene: NSRP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NSD2 | Achchuthan Shanmugasundram commented on gene: NSD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NPRL3 | Achchuthan Shanmugasundram commented on gene: NPRL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NPRL2 | Achchuthan Shanmugasundram commented on gene: NPRL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NPL | Achchuthan Shanmugasundram commented on gene: NPL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NOVA2 | Achchuthan Shanmugasundram commented on gene: NOVA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NONO | Achchuthan Shanmugasundram commented on gene: NONO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NLRP3 | Achchuthan Shanmugasundram commented on gene: NLRP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NKX2-6 | Achchuthan Shanmugasundram commented on gene: NKX2-6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NID1 | Achchuthan Shanmugasundram commented on gene: NID1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NFIB | Achchuthan Shanmugasundram commented on gene: NFIB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NFIA | Achchuthan Shanmugasundram commented on gene: NFIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NEXN | Achchuthan Shanmugasundram commented on gene: NEXN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NCAPD2 | Achchuthan Shanmugasundram commented on gene: NCAPD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | NAA15 | Achchuthan Shanmugasundram commented on gene: NAA15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MYSM1 | Achchuthan Shanmugasundram commented on gene: MYSM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MYOD1 | Achchuthan Shanmugasundram commented on gene: MYOD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MYBPC3 | Achchuthan Shanmugasundram commented on gene: MYBPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MVK | Achchuthan Shanmugasundram commented on gene: MVK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MTX2 | Achchuthan Shanmugasundram commented on gene: MTX2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MT-TL1 | Achchuthan Shanmugasundram commented on gene: MT-TL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MT-TE | Achchuthan Shanmugasundram commented on gene: MT-TE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MPZ | Achchuthan Shanmugasundram commented on gene: MPZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MPDZ | Achchuthan Shanmugasundram commented on gene: MPDZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MNS1 | Achchuthan Shanmugasundram commented on gene: MNS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MITF | Achchuthan Shanmugasundram commented on gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MINPP1 | Achchuthan Shanmugasundram commented on gene: MINPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MGAT2 | Achchuthan Shanmugasundram commented on gene: MGAT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MED27 | Achchuthan Shanmugasundram commented on gene: MED27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MED25 | Achchuthan Shanmugasundram commented on gene: MED25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MED17 | Achchuthan Shanmugasundram commented on gene: MED17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MCIDAS | Achchuthan Shanmugasundram commented on gene: MCIDAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MBTPS1 | Achchuthan Shanmugasundram commented on gene: MBTPS1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAST1 | Achchuthan Shanmugasundram commented on gene: MAST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAPKAPK5 | Achchuthan Shanmugasundram commented on gene: MAPKAPK5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAPK8IP3 | Achchuthan Shanmugasundram commented on gene: MAPK8IP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAPK1 | Achchuthan Shanmugasundram commented on gene: MAPK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAP1B | Achchuthan Shanmugasundram commented on gene: MAP1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAN2C1 | Achchuthan Shanmugasundram commented on gene: MAN2C1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAMLD1 | Achchuthan Shanmugasundram commented on gene: MAMLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | MAB21L1 | Achchuthan Shanmugasundram commented on gene: MAB21L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | LTBP1 | Achchuthan Shanmugasundram commented on gene: LTBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | LAGE3 | Achchuthan Shanmugasundram commented on gene: LAGE3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KIF4A | Achchuthan Shanmugasundram commented on gene: KIF4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KIF21B | Achchuthan Shanmugasundram commented on gene: KIF21B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KIDINS220 | Achchuthan Shanmugasundram commented on gene: KIDINS220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KIAA0825 | Achchuthan Shanmugasundram commented on gene: KIAA0825 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KIAA0556 | Achchuthan Shanmugasundram commented on gene: KIAA0556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KDM1A | Achchuthan Shanmugasundram commented on gene: KDM1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KCNQ1 | Achchuthan Shanmugasundram commented on gene: KCNQ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KCNJ8 | Achchuthan Shanmugasundram commented on gene: KCNJ8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KCNH1 | Achchuthan Shanmugasundram commented on gene: KCNH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | KAT5 | Achchuthan Shanmugasundram commented on gene: KAT5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | JAM3 | Achchuthan Shanmugasundram commented on gene: JAM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ITPR1 | Achchuthan Shanmugasundram commented on gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | IRX5 | Achchuthan Shanmugasundram commented on gene: IRX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | IQCE | Achchuthan Shanmugasundram commented on gene: IQCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | INTS1 | Achchuthan Shanmugasundram commented on gene: INTS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | IKZF1 | Achchuthan Shanmugasundram commented on gene: IKZF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | IFT74 | Achchuthan Shanmugasundram commented on gene: IFT74 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | IFT27 | Achchuthan Shanmugasundram commented on gene: IFT27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HYAL2 | Achchuthan Shanmugasundram commented on gene: HYAL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HSPA9 | Achchuthan Shanmugasundram commented on gene: HSPA9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HS2ST1 | Achchuthan Shanmugasundram commented on gene: HS2ST1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HOXA2 | Achchuthan Shanmugasundram commented on gene: HOXA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HNRNPH2 | Achchuthan Shanmugasundram commented on gene: HNRNPH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HMX1 | Achchuthan Shanmugasundram commented on gene: HMX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HMGB1 | Achchuthan Shanmugasundram commented on gene: HMGB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HK1 | Achchuthan Shanmugasundram commented on gene: HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HIST1H4C | Achchuthan Shanmugasundram commented on gene: HIST1H4C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HHAT | Achchuthan Shanmugasundram commented on gene: HHAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | HERC1 | Achchuthan Shanmugasundram commented on gene: HERC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | H3F3A | Achchuthan Shanmugasundram commented on gene: H3F3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GTPBP2 | Achchuthan Shanmugasundram commented on gene: GTPBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GRM7 | Achchuthan Shanmugasundram commented on gene: GRM7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GPX4 | Achchuthan Shanmugasundram commented on gene: GPX4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GLMN | Achchuthan Shanmugasundram commented on gene: GLMN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GHR | Achchuthan Shanmugasundram commented on gene: GHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GFRA1 | Achchuthan Shanmugasundram commented on gene: GFRA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GDF11 | Achchuthan Shanmugasundram commented on gene: GDF11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GATA5 | Achchuthan Shanmugasundram commented on gene: GATA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GATA1 | Achchuthan Shanmugasundram commented on gene: GATA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | GABRB2 | Achchuthan Shanmugasundram commented on gene: GABRB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | G6PD | Achchuthan Shanmugasundram commented on gene: G6PD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FRMPD4 | Achchuthan Shanmugasundram commented on gene: FRMPD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FRA10AC1 | Achchuthan Shanmugasundram commented on gene: FRA10AC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FOXJ1 | Achchuthan Shanmugasundram commented on gene: FOXJ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FGF9 | Achchuthan Shanmugasundram commented on gene: FGF9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FBXW11 | Achchuthan Shanmugasundram commented on gene: FBXW11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FBRSL1 | Achchuthan Shanmugasundram commented on gene: FBRSL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FAT1 | Achchuthan Shanmugasundram commented on gene: FAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | FAM149B1 | Achchuthan Shanmugasundram commented on gene: FAM149B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EXOSC9 | Achchuthan Shanmugasundram commented on gene: EXOSC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EXOSC8 | Achchuthan Shanmugasundram commented on gene: EXOSC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EXOSC5 | Achchuthan Shanmugasundram commented on gene: EXOSC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EXOC7 | Achchuthan Shanmugasundram commented on gene: EXOC7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ERGIC1 | Achchuthan Shanmugasundram commented on gene: ERGIC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ERBB3 | Achchuthan Shanmugasundram commented on gene: ERBB3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EN1 | Achchuthan Shanmugasundram commented on gene: EN1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EMC1 | Achchuthan Shanmugasundram commented on gene: EMC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EIF3F | Achchuthan Shanmugasundram commented on gene: EIF3F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EFEMP2 | Achchuthan Shanmugasundram commented on gene: EFEMP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EEF2 | Achchuthan Shanmugasundram commented on gene: EEF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | EDN3 | Achchuthan Shanmugasundram commented on gene: EDN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DYNC1I2 | Achchuthan Shanmugasundram commented on gene: DYNC1I2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DYNC1I1 | Achchuthan Shanmugasundram commented on gene: DYNC1I1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DPH1 | Achchuthan Shanmugasundram commented on gene: DPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DPF2 | Achchuthan Shanmugasundram commented on gene: DPF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DOCK7 | Achchuthan Shanmugasundram commented on gene: DOCK7: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DNAJC19 | Achchuthan Shanmugasundram commented on gene: DNAJC19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DLL1 | Achchuthan Shanmugasundram commented on gene: DLL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DICER1 | Achchuthan Shanmugasundram commented on gene: DICER1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DEPDC5 | Achchuthan Shanmugasundram commented on gene: DEPDC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DEAF1 | Achchuthan Shanmugasundram commented on gene: DEAF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DDX6 | Achchuthan Shanmugasundram commented on gene: DDX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | DCC | Achchuthan Shanmugasundram commented on gene: DCC: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | D2HGDH | Achchuthan Shanmugasundram commented on gene: D2HGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CYBB | Achchuthan Shanmugasundram commented on gene: CYBB: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CWF19L1 | Achchuthan Shanmugasundram commented on gene: CWF19L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CTNNA2 | Achchuthan Shanmugasundram commented on gene: CTNNA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CTDP1 | Achchuthan Shanmugasundram commented on gene: CTDP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CPAMD8 | Achchuthan Shanmugasundram commented on gene: CPAMD8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | COLGALT1 | Achchuthan Shanmugasundram commented on gene: COLGALT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | COL9A3 | Achchuthan Shanmugasundram commented on gene: COL9A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | COL27A1 | Achchuthan Shanmugasundram commented on gene: COL27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | COL25A1 | Achchuthan Shanmugasundram commented on gene: COL25A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | COA7 | Achchuthan Shanmugasundram commented on gene: COA7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CLTC | Achchuthan Shanmugasundram commented on gene: CLTC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CLMP | Achchuthan Shanmugasundram commented on gene: CLMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CLCNKB | Achchuthan Shanmugasundram commented on gene: CLCNKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CITED2 | Achchuthan Shanmugasundram commented on gene: CITED2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CFAP52 | Achchuthan Shanmugasundram commented on gene: CFAP52 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CFAP45 | Achchuthan Shanmugasundram commented on gene: CFAP45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CEP85L | Achchuthan Shanmugasundram commented on gene: CEP85L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CELSR1 | Achchuthan Shanmugasundram commented on gene: CELSR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CCDC22 | Achchuthan Shanmugasundram commented on gene: CCDC22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CAPN15 | Achchuthan Shanmugasundram commented on gene: CAPN15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CALCRL | Achchuthan Shanmugasundram commented on gene: CALCRL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CACNA1D | Achchuthan Shanmugasundram commented on gene: CACNA1D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CACNA1A | Achchuthan Shanmugasundram commented on gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | C2orf69 | Achchuthan Shanmugasundram commented on gene: C2orf69 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | C12orf57 | Achchuthan Shanmugasundram commented on gene: C12orf57 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | BRF1 | Achchuthan Shanmugasundram commented on gene: BRF1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | BRD4 | Achchuthan Shanmugasundram commented on gene: BRD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | BRCA1 | Achchuthan Shanmugasundram commented on gene: BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | BCAS3 | Achchuthan Shanmugasundram commented on gene: BCAS3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | B9D1 | Achchuthan Shanmugasundram commented on gene: B9D1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AUTS2 | Achchuthan Shanmugasundram commented on gene: AUTS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ATP6V1B2 | Achchuthan Shanmugasundram commented on gene: ATP6V1B2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ATP1A3 | Achchuthan Shanmugasundram commented on gene: ATP1A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ATP11C | Achchuthan Shanmugasundram commented on gene: ATP11C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ATN1 | Achchuthan Shanmugasundram commented on gene: ATN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ATAD1 | Achchuthan Shanmugasundram commented on gene: ATAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ASXL2 | Achchuthan Shanmugasundram commented on gene: ASXL2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ARL3 | Achchuthan Shanmugasundram commented on gene: ARL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ARID2 | Achchuthan Shanmugasundram commented on gene: ARID2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ARF1 | Achchuthan Shanmugasundram commented on gene: ARF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | APC2 | Achchuthan Shanmugasundram commented on gene: APC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AP4S1 | Achchuthan Shanmugasundram commented on gene: AP4S1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AP4M1 | Achchuthan Shanmugasundram commented on gene: AP4M1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AP4B1 | Achchuthan Shanmugasundram commented on gene: AP4B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ANKRD17 | Achchuthan Shanmugasundram commented on gene: ANKRD17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ANKLE2 | Achchuthan Shanmugasundram commented on gene: ANKLE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ANGPT2 | Achchuthan Shanmugasundram commented on gene: ANGPT2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AMBRA1 | Achchuthan Shanmugasundram commented on gene: AMBRA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ALPK3 | Achchuthan Shanmugasundram commented on gene: ALPK3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ALG14 | Achchuthan Shanmugasundram commented on gene: ALG14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ALDH1A2 | Achchuthan Shanmugasundram commented on gene: ALDH1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ALB | Achchuthan Shanmugasundram commented on gene: ALB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AIMP1 | Achchuthan Shanmugasundram commented on gene: AIMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AGT | Achchuthan Shanmugasundram commented on gene: AGT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AFF3 | Achchuthan Shanmugasundram commented on gene: AFF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ADCY6 | Achchuthan Shanmugasundram commented on gene: ADCY6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ADAMTS19 | Achchuthan Shanmugasundram commented on gene: ADAMTS19: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ACVRL1 | Achchuthan Shanmugasundram commented on gene: ACVRL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ACVR1 | Achchuthan Shanmugasundram commented on gene: ACVR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ACSL4 | Achchuthan Shanmugasundram commented on gene: ACSL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | ABHD16A | Achchuthan Shanmugasundram commented on gene: ABHD16A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AARS | Achchuthan Shanmugasundram commented on gene: AARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNHIT3 | Lyn Chitty reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020, 31048081; Phenotypes: PEHO syndrome, OMIM:260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNF699 | Samantha Doyle reviewed gene: ZNF699: Rating: GREEN; Mode of pathogenicity: ; Publications: 33875846; Phenotypes: DEGCAGS syndrome, OMIM:619488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNF526 | Natalie Canham reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: ; Publications: 33397746, 21937992, 25558065; Phenotypes: Dystonia, Hypertonia, Intellectual disability, Cataracts, Microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNF462 | Natalie Bibb reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, OMIM:618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZNF335 | Anna de Burca reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 23178126, 34982360, 29652087, 27540107; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM:615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZMYM2 | Esther Kinning reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZMIZ1 | Denise Williams reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322, 31879022; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZFPM2 | Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16103912, 10892744, 24702427, 21919901, 14517948, 17568391; Phenotypes: Tetralogy of Fallot, OMIM:187500, Diaphragmatic hernia 3, OMIM:610187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ZBTB24 | Stephanie Allen reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: ; Publications: 21596365, 21906047, 32061411, 29023266, 32865561, 22786748, 23739126, 28128455; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | YRDC | Samantha Doyle reviewed gene: YRDC: Rating: RED; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | YIPF5 | Lyn Chitty reviewed gene: YIPF5: Rating: RED; Mode of pathogenicity: ; Publications: 33164986; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | YIF1B | Samantha Doyle reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 26077767, 32006098; Phenotypes: Kaya-Barakat-Masson syndrome, OMIM:619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | YAP1 | Natalie Canham reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24462371, 28801591, 27267789; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | WWOX | Natalie Bibb reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33916893; Phenotypes: Developmental and epileptic encephalopathy 28, OMIM:616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | WDR4 | Esther Kinning reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28617965, 26416026; Phenotypes: Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | WDR37 | Denise Williams reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327508, 31327510; Phenotypes: Neurooculocardiogenitourinary syndrome, OMIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | VPS4A | Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33186543, 33186545; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | UNC13D | Esther Kinning reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Familial Hemophagocytic Lymphohistiocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | UBR7 | Stephanie Allen reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 33340455; Phenotypes: Li-Campeau syndrome, OMIM:619189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | UBA2 | Samantha Doyle reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31332306, 31587267; Phenotypes: Split-Hand/Foot Malformation, Aplasia Cutis Congenita, Ectrodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TUBGCP2 | Lyn Chitty reviewed gene: TUBGCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TTI2 | Samantha Doyle reviewed gene: TTI2: Rating: RED; Mode of pathogenicity: ; Publications: 32061250, 31737043, 23956177; Phenotypes: Mental retardation, autosomal recessive 39, OMIM:615541, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TSHR | Natalie Canham reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: ; Publications: 18655531, 15163335, 23295291, 9360555, 7800007; Phenotypes: Hyperthyroidism, nonautoimmune, OMIM:609152, Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TSEN15 | Natalie Bibb reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 30914295, 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TRRAP | Anna de Burca reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827496; Phenotypes: multiple congenital anomalies, Developmental delay with or without dysmorphic facies and autism, OMIM:618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TRNT1 | Denise Williams reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29055896, 33082562; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TRIO | Esther Kinning reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: 32109419, 26721934; Phenotypes: Mental retardation, autosomal dominant 44, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TRIM71 | Denise Williams reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: ; Publications: 32168371, 29983323, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1, OMIM:618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TRAPPC11 | Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27862579, 23830518, 26322222, 29855340, 30105108, 27707803, 26912795, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TPO | Stephanie Allen reviewed gene: TPO: Rating: RED; Mode of pathogenicity: ; Publications: 30662777, 34220711; Phenotypes: Thyroid dyshormonogenesis 2A, OMIM:274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TP73 | Samantha Doyle reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761, 31130284; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TOR1AIP1 | Lyn Chitty reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27342937, 24856141, 30723199, 32055997, 33215087, 31299614; Phenotypes: congenital myasthenic syndrome, Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TOP2B | Samantha Doyle reviewed gene: TOP2B: Rating: RED; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TNFRSF11A | Natalie Canham reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7, OMIM:612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TMTC3 | Natalie Bibb reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8, OMIM:617255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TMEM218 | Anna de Burca reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 25161209, 33791682; Phenotypes: Joubert syndrome 39, OMIM:619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TLL1 | Esther Kinning reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18830233, 31570783, 27418595, 30538173; Phenotypes: congenital heart disease, Atrial septal defect 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TLK2 | Denise Williams reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34821460, 31558842, 29861108; Phenotypes: Intellectual developmental disorder, autosomal dominant 57, OMIM:618050; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | THOC2 | Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32116545, 26166480, 32960281, 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TG | Stephanie Allen reviewed gene: TG: Rating: RED; Mode of pathogenicity: ; Publications: 28620499, 19169491, 18631008, 33832185, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, OMIM:274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TBX22 | Samantha Doyle reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: 22784330, 14729838, 17868388, 11559848, 12374769; Phenotypes: Abruzzo-Erickson syndrome, OMIM:302905, Cleft palate with ankyloglossia, OMIM:303400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TBC1D1 | Lyn Chitty reviewed gene: TBC1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26572137; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | TAOK1 | Samantha Doyle reviewed gene: TAOK1: Rating: RED; Mode of pathogenicity: ; Publications: 31230721, 35091509, 33565190; Phenotypes: Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SZT2 | Natalie Canham reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32402703, 30560016, 30359774, 28556953, 23932106; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM:615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SYT2 | Natalie Bibb reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 25192047, 32250532, 32776697; Phenotypes: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461, Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | STT3B | Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Congenital disorder of glycosylation, type Ix, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | STT3A | Esther Kinning reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28424003, 30701557, 34653363, 23842455; Phenotypes: Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | STK4 | Denise Williams reviewed gene: STK4: Rating: RED; Mode of pathogenicity: ; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | STIM1 | Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20876309, 31448844; Phenotypes: Myopathy, tubular aggregate, OMIM:160565, Immunodeficiency 10, OMIM:612783, Stormorken syndrome, OMIM:185070; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | STAT3 | Stephanie Allen reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31771449, 34366294, 30617622; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, Hyper-IgE recurrent infection syndrome, OMIM:147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SPTB | Stephanie Allen reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 33761640, 33082562, 35819869; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SPTA1 | Samantha Doyle reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SPRED2 | Samantha Doyle reviewed gene: SPRED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34626534, 36394128; Phenotypes: Noonan syndrome 14, OMIM:619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SPINT2 | Lyn Chitty reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185281, 24142340, 30445423, 20009592, 33374714, 33029133, 33547739; Phenotypes: congenital secretory sodium diarrhea 3, MONDO:0010036, Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SPEN | Samantha Doyle reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome, OMIM:619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SOX11 | Natalie Canham reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 33785884, 24886874, 31530938, 33086258, 33430815; Phenotypes: Coffin-Siris syndrome 9, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SNAP29 | Natalie Bibb reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: 28388629, 15968592, 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528, CEDNIK syndrome, MONDO:0012290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SMARCD1 | Natalie Chandler reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879640; Phenotypes: Coffin-Siris syndrome 11, OMIM:618779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SMARCAL1 | Anna de Burca reviewed gene: SMARCAL1: Rating: RED; Mode of pathogenicity: ; Publications: 20301550, 20036229, 17089404, 15523612; Phenotypes: Schimke immunoosseous dysplasia, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SMAD6 | Esther Kinning reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 22275001, 31138930, 32499606, 27606499; Phenotypes: {Craniosynostosis 7, susceptibility to}, OMIM:617439, Aortic valve disease 2, OMIM:614823, {Radioulnar synostosis, nonsyndromic}, OMIM:179300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SMAD2 | Denise Williams reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157302, 29967133, 23665959; Phenotypes: Loeys-Dietz syndrome 6, OMIM:619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SLC5A5 | Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: RED; Mode of pathogenicity: ; Publications: 32805706, 34726525, 34806438, 33815280, 31115276; Phenotypes: Thyroid dyshormonogenesis 1, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SLC4A1 | Lyn Chitty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 24652967; Phenotypes: Ovalocytosis, SA type, OMIM:166900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SLC25A26 | Anna de Burca reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522469, 33082562; Phenotypes: Combined oxidative phosphorylation deficiency 28, OMIM:616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SLC22A5 | Natalie Canham reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Primary carnitine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SLC20A1 | Stephanie Allen reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SKIV2L | Samantha Doyle reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444670, 27431780; Phenotypes: Trichohepatoenteric syndrome 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SIN3A | Lyn Chitty reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM:613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SHMT2 | Natalie Chandler reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33015733; Phenotypes: Polymicrogyria, corpus callosum anomalies, Microcephaly, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SF3B2 | Natalie Canham reviewed gene: SF3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34344887, 37555391; Phenotypes: Craniofacial microsomia, OMIM:164210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SERPINA11 | Natalie Bibb reviewed gene: SERPINA11: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: SERPINA11-prenatal lethal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SEMA3A | Natalie Bibb reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301509, 22927827, 24124006, 33369061, 21059704, 28075028; Phenotypes: skeletal anomalies, {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCNN1G | Anna de Burca reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: ; Publications: 31522814, 11231969, 8640238, 7633160; Phenotypes: Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCNN1B | Esther Kinning reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 8589714; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCNN1A | Denise Williams reviewed gene: SCNN1A: Rating: RED; Mode of pathogenicity: ; Publications: 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCN5A | Achchuthan Shanmugasundram reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19419784, 22064211, 15184283; Phenotypes: Sudden infant death syndrome, susceptibility to - #272120, Long QT syndrome 3 - #603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCN3A | Stephanie Allen reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740860, 32515017, 30146301; Phenotypes: Epileptic encephalopathy, early infantile, 62, OMIM:617938, Epilepsy, familial focal, with variable foci 4, OMIM:617935, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCAF4 | Natalie Chandler reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: Neurodevelopmental disorder MONDO#0700092, SCAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RPL15 | Lyn Chitty reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812780, 20301769, 29599205; Phenotypes: Diamond-Blackfan anemia 12, OMIM:615550, multiple congenital malformations, hydrops; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RNU12 | Natalie Chandler reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085356; Phenotypes: Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RNF125 | Natalie Canham reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: ; Publications: 25196541; Phenotypes: Tenorio syndrome, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RNF113A | Natalie Bibb reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25612912, 31793730, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM:300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RLIM | Anna de Burca reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, OMIM:300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RIN2 | Esther Kinning reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20954239, 30769224, 20424861, 24449201, 19631308; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RHOA | Esther Kinning reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RHEB | Denise Williams reviewed gene: RHEB: Rating: RED; Mode of pathogenicity: ; Publications: 29051493, 31337748; Phenotypes: Macrocephaly, Intellectual disability, Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RBP4 | Achchuthan Shanmugasundram reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29178648, 25910211; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RAP1B | Stephanie Allen reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: ; Publications: 26280580, 32627184; Phenotypes: Syndromic intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RAD51C | Natalie Chandler reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RAD51 | Lyn Chitty reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: 26681308, 30907510, 26253028; Phenotypes: Fanconi anaemia, complementation group R, OMIM:617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RAD50 | Natalie Chandler reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: ; Publications: 33378670, 32212377, 19409520; Phenotypes: MONDO:0013118, Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RAB11B | Natalie Canham reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | QARS | Natalie Bibb reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 24656866, 25432320, 25041233, 32042906, 25471517, 28620870; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PXDN | Anna de Burca reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31817535, 24939590, 32224865, 21907015, 32015378, 32499604; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PTPN23 | Esther Kinning reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899372, 29090338, 25558065, 31395947, 27848944; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PRR12 | Denise Williams reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 33314030; Phenotypes: Neuroocular syndrome, OMIM:619539, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PRF1 | Natalie Chandler reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19595804, 26199792, 30070073; Phenotypes: Aplastic anaemia, OMIM:609135, Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP3CA | Anna de Burca reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967, 33082562, 29432562; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP2R3C | Lyn Chitty reviewed gene: PPP2R3C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30893644, 34714774, 34750818; Phenotypes: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP2CA | Natalie Chandler reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP1R13L | Natalie Canham reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy, Cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP1R12A | Natalie Bibb reviewed gene: PPP1R12A: Rating: RED; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: holoprosencephaly, disorder of sex development, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPIL1 | Anna de Burca reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 14, OMIM:619301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | POLD1 | Esther Kinning reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23770608; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PLPBP | Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PLOD3 | Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 18834968, 30237576; Phenotypes: Lysyl hydroxylase 3 deficiency, OMIM:612394, Stickler-syndrome like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PLEC | Stephanie Allen reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28824526, 31509265, 22144912, 21263134, 21109228, 20624679; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950, Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PLAA | Lyn Chitty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PKP2 | Esther Kinning reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Severe cardiomyopathy with left ventricular noncompaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PIGH | Natalie Chandler reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052, 33156547, 35445667; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PIDD1 | Natalie Canham reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379, 28397838, 34163010, 29302074; Phenotypes: Global developmental delay, Seizures, Behavioral abnormality, Abnormality of the corpus callosum, Autism, Intellectual disability, Lissencephaly, Pachygyria, Psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PI4KA | Natalie Bibb reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PHF21A | Anna de Burca reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31649809, 30487643, 22770980; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PHEX | Esther Kinning reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: 9106524, 16055933, 19219621, 29791829; Phenotypes: Hypophosphatemic rickets, X-linked dominant, OMIM:307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PGAP1 | Denise Williams reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 25823418, 25804403, 26050939, 24784135; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PDE6D | Achchuthan Shanmugasundram reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: 30423442, 24166846; Phenotypes: Joubert syndrome 22, OMIM:615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PDE3A | Stephanie Allen reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, OMIM:112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PCDH12 | Natalie Chandler reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 30178464, 27164683; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PAX1 | Natalie Chandler reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 29681087, 32111619; Phenotypes: Otofaciocervical syndrome 2, OMIM:615560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PARP6 | Lyn Chitty reviewed gene: PARP6: Rating: AMBER; Mode of pathogenicity: ; Publications: 34067418; Phenotypes: Microcephaly, Intellectual disability, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PAM16 | Natalie Chandler reviewed gene: PAM16: Rating: AMBER; Mode of pathogenicity: ; Publications: 27354339, 24786642; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PACS2 | Natalie Canham reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66, OMIM:618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PACS1 | Natalie Bibb reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30712880, 32672908, 23159249, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, OMIM:615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | OTUD6B | Anna de Burca reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31147255, 32924626, 28343629; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | OTUD5 | Esther Kinning reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33523931, 33131077; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ORAI1 | Denise Williams reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31448844; Phenotypes: Myopathy, tubular aggregate, 2, OMIM:615883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NUP88 | Achchuthan Shanmugasundram reviewed gene: NUP88: Rating: AMBER; Mode of pathogenicity: ; Publications: 30543681; Phenotypes: Fetal akinesia deformation sequence 4, OMIM:618393, Fetal akinesia deformation sequence 4, MONDO:0100104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NUP188 | Stephanie Allen reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 28726809, 32021605, 32275884; Phenotypes: microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NSRP1 | Natalie Chandler reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: Intellectual disability, Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Cerebral palsy, microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NSD2 | Lyn Chitty reviewed gene: NSD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31171569, 30345613; Phenotypes: Rauch-Steindl syndrome, OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NPRL3 | Natalie Chandler reviewed gene: NPRL3: Rating: RED; Mode of pathogenicity: ; Publications: 27173016, 33461085, 35136953, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3, OMIM:617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NPRL2 | Natalie Canham reviewed gene: NPRL2: Rating: RED; Mode of pathogenicity: ; Publications: 29281825, 31625153, 22268191, 27173016, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 2, OMIM:617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NPL | Denise Williams reviewed gene: NPL: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Sialic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NOVA2 | Natalie Bibb reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NONO | Anna de Burca reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550220, 27329731, 32397791, 26571461; Phenotypes: Ebstein s anomaly, Pulmonary stenosis, Left ventricular non-compaction cardiomyopathy (LVNC), Mental retardation, X-linked, syndromic 34, MIM# 300967, Ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NLRP3 | Esther Kinning reviewed gene: NLRP3: Rating: RED; Mode of pathogenicity: ; Publications: 12928894, 12483741, 12032915; Phenotypes: CINCA syndrome, OMIM:607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NKX2-6 | Denise Williams reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 32198970, 15649947, 24421281, 25319568, 25380965; Phenotypes: Persistent truncus arteriosus, OMIM:217095, Conotruncal heart malformations, OMIM:217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NID1 | Achchuthan Shanmugasundram reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30773799, 12480912, 25558065, 23674478; Phenotypes: Hydrocephalus with or without seizures, Dandy-Walker malformation and occipital cephalocele; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NFIB | Stephanie Allen reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402, 32902921, 33130023; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NFIA | Natalie Chandler reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 32926563, 35018717, 36553517, 33973697; Phenotypes: Brain malformations with or without urinary tract defects, OMIM:613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NEXN | Lyn Chitty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33949776, 33947203, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Cardiomyopathy, dilated 1CC, OMIM:613122, Hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NCAPD2 | Natalie Chandler reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27737959, 28097321, 31056748; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM:617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NAA15 | Natalie Canham reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: 31127942, 33557580; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MYSM1 | Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Bone marrow failure syndrome 4, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MYOD1 | Natalie Bibb reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30403323, 26733463, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MYBPC3 | Esther Kinning reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19858127, 16679492, 17937428; Phenotypes: Cardiomyopathy, hypertrophic, 4, OMIM:115197, Neonatal hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MVK | Denise Williams reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 27012807, 16722536; Phenotypes: Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MTX2 | Achchuthan Shanmugasundram reviewed gene: MTX2: Rating: RED; Mode of pathogenicity: ; Publications: 32917887; Phenotypes: Mandibuloacral dysplasia progeroid syndrome, OMIM:619127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MT-TL1 | Stephanie Allen reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MT-TE | Natalie Chandler reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 17161635; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MPZ | Stephanie Allen reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MPDZ | Natalie Chandler reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499638, 30518636, 23240096, 28556411; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MNS1 | Lyn Chitty reviewed gene: MNS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30148830, 31534215; Phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MITF | Natalie Chandler reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: 32541011, 27889061; Phenotypes: COMMAD syndrome, OMIM:617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MINPP1 | Natalie Canham reviewed gene: MINPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33168985, 33257696; Phenotypes: Pontocerebellar hypoplasia, type 16, OMIM:619527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MGAT2 | Lyn Chitty reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: MGAT2-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MED27 | Natalie Bibb reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MED25 | Anna de Burca reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: ; Publications: 32324310, 25792360, 32816121; Phenotypes: Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643, hypospadias, thin corpus callosum, cerebral ventricular dilatation, multiple congenital anomalies, congenital heart defects, Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MED17 | Esther Kinning reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33756211, 30345598; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MCIDAS | Denise Williams reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25048963, 32802948, 30237576; Phenotypes: Hydrocephalus, Ciliary dyskinesia, primary, 42, OMIM:618695, Choroid plexus hyperplasia, Arachnoid cyst; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MBTPS1 | Achchuthan Shanmugasundram reviewed gene: MBTPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32857899, 32420688, 30046013; Phenotypes: Skeletal dysplasia, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAST1 | Stephanie Allen reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32818970, 32198973, 31721002, 30449657; Phenotypes: cerebellar hypoplasia, corpus callosum anomalies, cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAPKAPK5 | Natalie Chandler reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAPK8IP3 | Lyn Chitty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30945334, 30612693; Phenotypes: cerebral atrophy, Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, corpus callosum anomalies, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAPK1 | Natalie Chandler reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32721402; Phenotypes: Noonan syndrome 13, OMIM:619087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAP1B | Natalie Canham reviewed gene: MAP1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 33772511, 30150678, 31317654, 30214071; Phenotypes: Polymicrogyria, Periventricular nodular heterotopia 9, OMIM:618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAN2C1 | Natalie Bibb reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAMLD1 | Anna de Burca reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | MAB21L1 | Esther Kinning reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | LTBP1 | Denise Williams reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | LAGE3 | Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31069511, 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KIF4A | Stephanie Allen reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34346154, 30679815, 24812067; Phenotypes: Hydrocephalus, Intellectual developmental disorder, X-linked 100, OMIM:300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KIF21B | Natalie Chandler reviewed gene: KIF21B: Rating: AMBER; Mode of pathogenicity: ; Publications: 32415109; Phenotypes: Global developmental delay, Neurodevelopmental disorder, MONDO:0700092, Intellectual disability, Abnormality of brain morphology, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KIDINS220 | Lyn Chitty reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 32909676, 33205811, 22048169, 28934391; Phenotypes: cerebral ventriculomegaly, spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007, Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KIAA0825 | Natalie Chandler reviewed gene: KIAA0825: Rating: AMBER; Mode of pathogenicity: ; Publications: 30982135, 32147526, 33776623; Phenotypes: Polydactyly, postaxial, type A10, OMIM:618498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KIAA0556 | Natalie Canham reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: ; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KDM1A | Natalie Bibb reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27094131, 24838796, 26656649; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KCNQ1 | Anna de Burca reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: 27539165; Phenotypes: Long QT syndrome 1, OMIM:192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KCNJ8 | Esther Kinning reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24176758, 25275207, 24700710; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KCNH1 | Denise Williams reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811134; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | KAT5 | Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32822602; Phenotypes: Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | JAM3 | Stephanie Allen reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ITPR1 | Samantha Doyle reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | IRX5 | Natalie Chandler reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581230, 34899143, 29168297; Phenotypes: Hamamy syndrome, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | IQCE | Lyn Chitty reviewed gene: IQCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 28488682, 31549751; Phenotypes: Polydactyly, postaxial, type A7 OMIM:617642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | INTS1 | Natalie Chandler reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 31428919, 30622326; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | IKZF1 | Natalie Canham reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | IFT74 | Natalie Canham reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144365, 27486776, 33531668; Phenotypes: Bardet-Biedl syndrome 22, OMIM:617119, Joubert syndrome 40, OMIM:619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | IFT27 | Natalie Bibb reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 25443296, 24488770, 26763875, 30761183; Phenotypes: Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HYAL2 | Anna de Burca reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23172227, 28081210, 26515055, 34906488; Phenotypes: congenital cardiac malformations, Cleft lip and palate, cor triatriatum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HSPA9 | Esther Kinning reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26598328, 26491070, 32869452; Phenotypes: Anemia, sideroblastic, 4, OMIM:182170, Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HS2ST1 | Denise Williams reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: arthrogryposis, Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HOXA2 | Achchuthan Shanmugasundram reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: ; Publications: 32649979, 27503514, 28109504, 18394579, 23775976, 31567444; Phenotypes: Microtia with or without hearing impairment (AD), OMIM:612290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HNRNPH2 | Stephanie Allen reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31236915, 30887513, 34907471, 31670473, 33728377; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HMX1 | Natalie Chandler reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574057, 18423520; Phenotypes: Oculoauricular syndrome, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HMGB1 | Lyn Chitty reviewed gene: HMGB1: Rating: RED; Mode of pathogenicity: ; Publications: 34164801; Phenotypes: Neurodevelopmental disorder MONDO:0700092, HMGB1-related, intellectual disability, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HK1 | Natalie Bibb reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hexokinase deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HIST1H4C | Natalie Chandler reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: 28920961, 35202563; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HHAT | Natalie Canham reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 33749989, 30912300, 24784881; Phenotypes: Nivelon-Nivelon-Mabille syndrome, OMIM:600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | HERC1 | Natalie Bibb reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28323226, 26138117, 27108999, 26153217; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | H3F3A | Anna de Burca reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33268356; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GTPBP2 | Esther Kinning reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29449720, 30790272, 26675814; Phenotypes: Jaberi-Elahi syndrome, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GRM7 | Denise Williams reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 32248644; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GPX4 | Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GLMN | Anna de Burca reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 23801931; Phenotypes: Plaque-Type Glomuvenous Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GHR | Stephanie Allen reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9360502; Phenotypes: Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GFRA1 | Natalie Chandler reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36292572, 34737117, 33020172; Phenotypes: Renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GDF11 | Lyn Chitty reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GATA5 | Esther Kinning reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: congenital heart defects and genital anomalies, Congenital heart defects, multiple types, 5, Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GATA1 | Natalie Chandler reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10700180, 30914438, 29949202; Phenotypes: Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GABRB2 | Natalie Canham reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33325057, 27789573, 29100083; Phenotypes: Developmental and epileptic encephalopathy 92, OMIM:617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | G6PD | Denise Williams reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FRMPD4 | Natalie Bibb reviewed gene: FRMPD4: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 29267967; Phenotypes: Intellectual Disability, X-linked 104, OMIM:300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FRA10AC1 | Anna de Burca reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34694367; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FOXJ1 | Esther Kinning reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Ciliary dyskinesia, primary, 43, OMIM:618699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FGF9 | Denise Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 33174625, 19589401, 28730625, 33140402, 19219044; Phenotypes: Multiple synostoses syndrome 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FBXW11 | Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FBRSL1 | Stephanie Allen reviewed gene: FBRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32424618, 34805182; Phenotypes: congenital heart defect, Congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FAT1 | Natalie Chandler reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34013115, 33418956, 34202629, 26905694, 32902815, 30862798; Phenotypes: hand and foot anomalies, nephropathy, ocular anomalies, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | FAM149B1 | Lyn Chitty reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Joubert syndrome 36, OMIM:618763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EXOSC9 | Natalie Chandler reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30690203, 33040083, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EXOSC8 | Natalie Canham reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24989451, 34210538; Phenotypes: Pontocerebellar hypoplasia, type 1C, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EXOSC5 | Natalie Bibb reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32504085, 29302074; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EXOC7 | Anna de Burca reviewed gene: EXOC7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32103185; Phenotypes: Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ERGIC1 | Esther Kinning reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230720, 28317099, 34037256; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ERBB3 | Denise Williams reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701904, 31752936, 33720042; Phenotypes: Lethal congenital contractural syndrome 2, OMIM:607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EN1 | Achchuthan Shanmugasundram reviewed gene: EN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33568816; Phenotypes: ENDOVE syndrome, limb-brain type - OMIM#619218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EMC1 | Stephanie Allen reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EIF3F | Natalie Chandler reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: 33736665; Phenotypes: Intellectual developmental disorder, autosomal recessive 67, OMIM:618295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EFEMP2 | Lyn Chitty reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19664000, 23532871, 31548410, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EEF2 | Natalie Chandler reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33355653; Phenotypes: hydrocephalus, Neurodevelopmental disorder, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EDN3 | Natalie Canham reviewed gene: EDN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 9359047, 27370713, 11303518, 10231870, 8630502, 30171849; Phenotypes: Central hypoventilation syndrome, congenital, OMIM:209880, Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DYNC1I2 | Natalie Bibb reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DYNC1I1 | Anna de Burca reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32219838, 25231166, 22914741; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DPH1 | Esther Kinning reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32732226, 30877278, 29362492, 25558065; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DPF2 | Denise Williams reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7, OMIM:618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DOCK7 | Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: 30807358, 24814191, 30771731; Phenotypes: Developmental and epileptic encephalopathy 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DNAJC19 | Stephanie Allen reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: 17244376, 22797137, 16055927; Phenotypes: 3-methylglutaconic aciduria, type V, OMIM:610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DLL1 | Natalie Chandler reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DICER1 | Lyn Chitty reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: 35114704, 29343557, 33208384, 31232238, 27960159, 24676357, 26227654; Phenotypes: GLOW syndrome, somatic mosaic, OMIM:618272, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800, Pleuropulmonary blastoma, OMIM:601200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DEPDC5 | Natalie Chandler reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36067010, 32848577; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364 biallelic only; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DEAF1 | Natalie Canham reviewed gene: DEAF1: Rating: RED; Mode of pathogenicity: ; Publications: 28940898, 30923367, 26048982, 24726472, 26834045; Phenotypes: Vulto-van Silfout-de Vries syndrome, OMIM:615828, Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DDX6 | Natalie Bibb reviewed gene: DDX6: Rating: RED; Mode of pathogenicity: ; Publications: 31422817; Phenotypes: Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DCC | Anna de Burca reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250454, 28250456, 20431009, 21242494, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | D2HGDH | Esther Kinning reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CYBB | Achchuthan Shanmugasundram reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16795136, 33082562; Phenotypes: X-linked Chronic granulomatous disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CWF19L1 | Denise Williams reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27016154; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CTNNA2 | Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Cortical dysplasia, complex, with other brain malformations 9, MIM#618174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CTDP1 | Stephanie Allen reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301787, 14517542, 24690360, 29174527, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CPAMD8 | Natalie Chandler reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, OMIM: 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COLGALT1 | Lyn Chitty reviewed gene: COLGALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31759980, 30412317, 33709034; Phenotypes: Brain small vessel disease 3, OMIM:618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COL9A3 | Natalie Chandler reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: 15551337, 31090205, 25381065, 24273071, 33570243, 30450842; Phenotypes: Stickler syndrome, type VI, OMIM:620022, Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COL27A1 | Natalie Canham reviewed gene: COL27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24986830, 28276056, 28322503; Phenotypes: Steel syndrome, OMIM:615155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COL25A1 | Natalie Bibb reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: ; Publications: 26437029, 35077597; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COA7 | Natalie Chandler reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683825, 29718187; Phenotypes: the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions, Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CLTC | Anna de Burca reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 33743358, 26822784, 31776469, 34230591, 29100083; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CLMP | Esther Kinning reviewed gene: CLMP: Rating: RED; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: Congenital short bowel syndrome, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CLCNKB | Denise Williams reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CITED2 | Achchuthan Shanmugasundram reviewed gene: CITED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16287139, 29536580, 33706167, 31515672, 11694877, 33439552; Phenotypes: Atrial septal defect 8, OMIM:614433, Ventricular septal defect 2, OMIM:614431, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CFAP52 | Stephanie Allen reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725, 25469542; Phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CFAP45 | Natalie Chandler reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725; Phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CEP85L | Lyn Chitty reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: Lissencephaly 10, posterior predominant, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CELSR1 | Natalie Chandler reviewed gene: CELSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26855770, 31215153, 31403174; Phenotypes: Lymphatic malformation 9, OMIM:619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CCDC22 | Natalie Canham reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: ; Publications: 24916641, 21826058, 34020006, 31971710, 33059814; Phenotypes: Ritscher-Schinzel syndrome 2, OMIM:300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CAPN15 | Natalie Bibb reviewed gene: CAPN15: Rating: AMBER; Mode of pathogenicity: ; Publications: 32885237; Phenotypes: microphthalmia HP:0000568, coloboma HP:0000589, Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CALCRL | Stephanie Allen reviewed gene: CALCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 30115739, 16537897; Phenotypes: Lymphatic Malformation 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CACNA1D | Anna de Burca reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: 28472301, 25620733, 31921405; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CACNA1A | Natalie Chandler reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, OMIM:617106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | C2orf69 | Esther Kinning reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: 33945503, 34038740; Phenotypes: Combined oxidative phosphorylation deficiency 53, OMIM:619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | C12orf57 | Denise Williams reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 31853307, 29383837; Phenotypes: Temtamy syndrome, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | BRF1 | Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27748960, 25561519; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | BRD4 | Stephanie Allen reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34035299, 30302754, 29379197, 11997514; Phenotypes: Cornelia de Lange syndrome, MONDO:0016033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | BRCA1 | Natalie Chandler reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865, 29133208, 34680915; Phenotypes: Fanconi anaemia, complementation group S, OMIM:617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | BCAS3 | Lyn Chitty reviewed gene: BCAS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: Hengel-Maroofian-Schols syndrome, OMIM:619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | B9D1 | Natalie Chandler reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34338422, 25920555, 32622957, 21763481, 21493627, 24886560; Phenotypes: Joubert syndrome 27, MONDO:0014927, Joubert syndrome 27, OMIM:617120, Meckel syndrome 9, OMIM:614209, Meckel syndrome 9, MONDO:0013630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AUTS2 | Natalie Canham reviewed gene: AUTS2: Rating: RED; Mode of pathogenicity: ; Publications: 23332918, 25205402, 31474318; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, OMIM:615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ATP6V1B2 | Natalie Bibb reviewed gene: ATP6V1B2: Rating: RED; Mode of pathogenicity: ; Publications: 28396750, 24913193, 25915598; Phenotypes: Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480, Zimmermann-Laband syndrome 2, OMIM:616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ATP1A3 | Anna de Burca reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: 33880529, 33762331; Phenotypes: Polymicrogyria, Developmental and epileptic encephalopathy 99, OMIM:619606; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ATP11C | Samantha Doyle reviewed gene: ATP11C: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: X-linked hemolytic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ATN1 | Esther Kinning reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827498, 34212383; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ATAD1 | Denise Williams reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29390050, 29659736, 28180185; Phenotypes: Hyperekplexia 4, OMIM:618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ASXL2 | Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ARL3 | Stephanie Allen reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269812, 16565502; Phenotypes: Joubert syndrome 35, OMIM:618161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ARID2 | Natalie Chandler reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28884947, 26238514, 35813374, 30838730, 28124119, 29698805; Phenotypes: Coffin-Siris syndrome 6, OMIM:617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ARF1 | Lyn Chitty reviewed gene: ARF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28868155, 34353862; Phenotypes: Periventricular nodular heterotopia 8, OMIM:618185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | APC2 | Natalie Chandler reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AP4S1 | Natalie Canham reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283821, 25552650, 31915823, 27444738, 32216065, 21620353, 32979048; Phenotypes: Spastic paraplegia 52, autosomal recessive, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AP4M1 | Natalie Bibb reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29096665, 21937992, 19559397, 28464862, 31915823, 25496299, 32979048; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AP4B1 | Anna de Burca reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24781758, 24700674, 32166732, 31525725, 32171285, 22290197, 21620353, 32979048; Phenotypes: Hereditary spastic paraplegia 47, MONDO:0013551, Spastic paraplegia 47, autosomal recessive, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ANKRD17 | Esther Kinning reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33909992; Phenotypes: multiple congenital malformations, Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ANKLE2 | Denise Williams reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31735666, 25259927, 30214071; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ANGPT2 | Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32908006, 34876502; Phenotypes: Hydrops fetalis, MONDO:0015193, Lymphatic malformation-10, MIM#619369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AMBRA1 | Stephanie Allen reviewed gene: AMBRA1: Rating: RED; Mode of pathogenicity: ; Publications: 32333458, 17589504; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ALPK3 | Natalie Chandler reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26846950, 28630369; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ALG14 | Lyn Chitty reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 34971077, 23404334, 28733338, 30221345; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ALDH1A2 | Natalie Chandler reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33565183, 36263470; Phenotypes: Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ALB | Natalie Canham reviewed gene: ALB: Rating: RED; Mode of pathogenicity: ; Publications: 31057599, 15300429, 23730173; Phenotypes: Analbuminemia, OMIM:616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AIMP1 | Natalie Bibb reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: 32531460, 33402283, 21092922, 24958424, 30477741, 30486714, 26173967; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AGT | Anna de Burca reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: 33163725, 34234805, 16116425; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AFF3 | Esther Kinning reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, OMIM:619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ADCY6 | Denise Williams reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: ; Publications: 33820833, 26257172, 24319099, 31846058; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287, MONDO:0014570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ADAMTS19 | Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: AMBER; Mode of pathogenicity: ; Publications: 31844321, 32323311; Phenotypes: Heart valve disorder, MONDO:0002869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ACVRL1 | Stephanie Allen reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988128, 26126400, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ACVR1 | Natalie Chandler reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16642017, 29089047; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ACSL4 | Lyn Chitty reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: ; Publications: 12525535; Phenotypes: Mental retardation, X-linked 63 , OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ABHD16A | Natalie Chandler reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: ; Publications: 34866177, 34489854, 34587489; Phenotypes: Spastic paraplegia 86, autosomal recessive, OMIM:619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AARS | Natalie Canham reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25817015, 28493438; Phenotypes: Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ZNHIT3 |
Achchuthan Shanmugasundram gene: ZNHIT3 was added gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNHIT3 were set to 28335020; 31048081 Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565 |
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| Fetal anomalies v4.34 | ZNF699 |
Achchuthan Shanmugasundram gene: ZNF699 was added gene: ZNF699 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF699 were set to 33875846 Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, OMIM:619488 |
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| Fetal anomalies v4.34 | ZNF526 |
Achchuthan Shanmugasundram gene: ZNF526 was added gene: ZNF526 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 33397746; 21937992; 25558065 Phenotypes for gene: ZNF526 were set to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 |
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| Fetal anomalies v4.34 | ZNF462 |
Achchuthan Shanmugasundram Source NHS GMS was added to ZNF462. Mode of inheritance for gene ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Weiss-Kruszka syndrome, OMIM:618619 for gene: ZNF462 Publications for gene: ZNF462 were updated from to 28513610; 31361404 |
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| Fetal anomalies v4.34 | ZNF335 |
Achchuthan Shanmugasundram gene: ZNF335 was added gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107 Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095 |
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| Fetal anomalies v4.34 | ZMIZ1 |
Achchuthan Shanmugasundram gene: ZMIZ1 was added gene: ZMIZ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMIZ1 were set to 30639322; 31879022 Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659 |
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| Fetal anomalies v4.34 | ZBTB24 |
Achchuthan Shanmugasundram gene: ZBTB24 was added gene: ZBTB24 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB24 were set to 21596365; 21906047; 32061411; 29023266; 32865561; 22786748; 23739126; 28128455 Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069 |
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| Fetal anomalies v4.34 | YRDC |
Achchuthan Shanmugasundram gene: YRDC was added gene: YRDC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669; 34545459 Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM:619609 |
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| Fetal anomalies v4.34 | YIPF5 |
Achchuthan Shanmugasundram gene: YIPF5 was added gene: YIPF5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIPF5 were set to 33164986 Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 |
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| Fetal anomalies v4.34 | YIF1B |
Achchuthan Shanmugasundram gene: YIF1B was added gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 26077767; 32006098 Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125 |
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| Fetal anomalies v4.34 | YAP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to YAP1. Mode of inheritance for gene YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 for gene: YAP1 Publications for gene: YAP1 were updated from to 24462371; 28801591; 27267789 |
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| Fetal anomalies v4.34 | WDR4 |
Achchuthan Shanmugasundram gene: WDR4 was added gene: WDR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR4 were set to 28617965; 26416026 Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346 |
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| Fetal anomalies v4.34 | WDR37 |
Achchuthan Shanmugasundram gene: WDR37 was added gene: WDR37 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to 31327508; 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome, OMIM:618652 |
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| Fetal anomalies v4.34 | VPS4A |
Achchuthan Shanmugasundram gene: VPS4A was added gene: VPS4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VPS4A were set to 33186543; 33186545 Phenotypes for gene: VPS4A were set to CIMDAG syndrome, OMIM:619273 |
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| Fetal anomalies v4.34 | UBR7 |
Achchuthan Shanmugasundram gene: UBR7 was added gene: UBR7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR7 were set to 33340455 Phenotypes for gene: UBR7 were set to Li-Campeau syndrome, OMIM:619189 |
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| Fetal anomalies v4.34 | UBA2 |
Achchuthan Shanmugasundram gene: UBA2 was added gene: UBA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBA2 were set to 31332306; 31587267 Phenotypes for gene: UBA2 were set to ACCES syndrome, OMIM:619959 |
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| Fetal anomalies v4.34 | TUBGCP2 |
Achchuthan Shanmugasundram gene: TUBGCP2 was added gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBGCP2 were set to 31630790 Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 |
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| Fetal anomalies v4.34 | TTI2 |
Achchuthan Shanmugasundram Source NHS GMS was added to TTI2. Source Expert Review Red was added to TTI2. Added phenotypes Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly for gene: TTI2 Publications for gene: TTI2 were updated from to 32061250; 31737043; 23956177 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | TSHR |
Achchuthan Shanmugasundram Source NHS GMS was added to TSHR. Mode of inheritance for gene TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 for gene: TSHR Publications for gene: TSHR were updated from to 18655531; 15163335; 23295291; 9360555; 7800007 |
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| Fetal anomalies v4.34 | TRRAP |
Achchuthan Shanmugasundram gene: TRRAP was added gene: TRRAP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to 30827496 Phenotypes for gene: TRRAP were set to multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454 |
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| Fetal anomalies v4.34 | TRNT1 |
Achchuthan Shanmugasundram gene: TRNT1 was added gene: TRNT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 29055896; 33082562 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084 |
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| Fetal anomalies v4.34 | TRIO |
Achchuthan Shanmugasundram Source NHS GMS was added to TRIO. Mode of inheritance for gene TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 for gene: TRIO Publications for gene: TRIO were updated from to 32109419; 26721934 |
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| Fetal anomalies v4.34 | TRIM71 |
Achchuthan Shanmugasundram gene: TRIM71 was added gene: TRIM71 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM71 were set to 32168371; 29983323; 30975633 Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, OMIM:618667 |
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| Fetal anomalies v4.34 | TPO |
Achchuthan Shanmugasundram gene: TPO was added gene: TPO was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPO were set to 30662777; 34220711 Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A, OMIM:274500 |
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| Fetal anomalies v4.34 | TP73 |
Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761; 31130284 Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 |
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| Fetal anomalies v4.34 | TOR1AIP1 |
Achchuthan Shanmugasundram gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 27342937; 24856141; 30723199; 32055997; 33215087; 31299614 Phenotypes for gene: TOR1AIP1 were set to congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 |
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| Fetal anomalies v4.34 | TOP2B |
Achchuthan Shanmugasundram gene: TOP2B was added gene: TOP2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOP2B were set to 31409799 Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296 |
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| Fetal anomalies v4.34 | TNFRSF11A |
Achchuthan Shanmugasundram gene: TNFRSF11A was added gene: TNFRSF11A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11A were set to 18606301; 32048120 Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, OMIM:612301 |
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| Fetal anomalies v4.34 | TMEM218 |
Achchuthan Shanmugasundram gene: TMEM218 was added gene: TMEM218 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 25161209; 33791682 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562 |
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| Fetal anomalies v4.34 | TLK2 |
Achchuthan Shanmugasundram gene: TLK2 was added gene: TLK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: TLK2 were set to 34821460; 31558842; 29861108 Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57, OMIM:618050 |
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| Fetal anomalies v4.34 | TG |
Achchuthan Shanmugasundram gene: TG was added gene: TG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TG were set to 28620499; 19169491; 18631008; 33832185; 12915634 Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3, OMIM:274700 |
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| Fetal anomalies v4.34 | TBX22 |
Achchuthan Shanmugasundram Source NHS GMS was added to TBX22. Mode of inheritance for gene TBX22 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) Added phenotypes Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 for gene: TBX22 Publications for gene: TBX22 were updated from 22784330 to 22784330; 14729838; 17868388; 11559848; 12374769 |
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| Fetal anomalies v4.34 | TBC1D1 |
Achchuthan Shanmugasundram gene: TBC1D1 was added gene: TBC1D1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBC1D1 were set to 26572137 Phenotypes for gene: TBC1D1 were set to CAKUT |
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| Fetal anomalies v4.34 | TAOK1 |
Achchuthan Shanmugasundram gene: TAOK1 was added gene: TAOK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAOK1 were set to 31230721; 35091509; 33565190 Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575 |
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| Fetal anomalies v4.34 | SYT2 |
Achchuthan Shanmugasundram gene: SYT2 was added gene: SYT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SYT2 were set to 30533528; 25192047; 32250532; 32776697 Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040 |
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| Fetal anomalies v4.34 | STT3B |
Achchuthan Shanmugasundram gene: STT3B was added gene: STT3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3B were set to 33082562 Phenotypes for gene: STT3B were set to Congenital disorder of glycosylation, type Ix, OMIM:615597 |
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| Fetal anomalies v4.34 | STT3A |
Achchuthan Shanmugasundram gene: STT3A was added gene: STT3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STT3A were set to 28424003; 30701557; 34653363; 23842455 Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 |
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| Fetal anomalies v4.34 | STK4 |
Achchuthan Shanmugasundram gene: STK4 was added gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854 Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868 |
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| Fetal anomalies v4.34 | STIM1 |
Achchuthan Shanmugasundram gene: STIM1 was added gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 20876309; 31448844 Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070 |
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| Fetal anomalies v4.34 | STAT3 |
Achchuthan Shanmugasundram gene: STAT3 was added gene: STAT3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 31771449; 34366294; 30617622 Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060 |
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| Fetal anomalies v4.34 | SPTB |
Achchuthan Shanmugasundram gene: SPTB was added gene: SPTB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTB were set to 33761640; 33082562; 35819869 Phenotypes for gene: SPTB were set to Elliptocytosis-3, OMIM:617948; Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948; Spherocytosis, type 2, OMIM:616649 |
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| Fetal anomalies v4.34 | SPTA1 |
Achchuthan Shanmugasundram Source NHS GMS was added to SPTA1. Source Expert Review Red was added to SPTA1. Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Elliptocytosis-2, OMIM:130600; Spherocytosis, type 3, OMIM:270970 for gene: SPTA1 Publications for gene: SPTA1 were updated from 31333484; 34132406 to 31333484; 33082562; 34132406 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | SPRED2 |
Achchuthan Shanmugasundram gene: SPRED2 was added gene: SPRED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534; 36394128 Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745 |
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| Fetal anomalies v4.34 | SPINT2 |
Achchuthan Shanmugasundram gene: SPINT2 was added gene: SPINT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINT2 were set to 19185281; 24142340; 30445423; 20009592; 33374714; 33029133; 33547739 Phenotypes for gene: SPINT2 were set to congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 |
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| Fetal anomalies v4.34 | SPEN |
Achchuthan Shanmugasundram gene: SPEN was added gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPEN were set to 33596411 Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312 |
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| Fetal anomalies v4.34 | SOX11 |
Achchuthan Shanmugasundram Source NHS GMS was added to SOX11. Mode of inheritance for gene SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 for gene: SOX11 Publications for gene: SOX11 were updated from to 33785884; 24886874; 31530938; 33086258; 33430815 |
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| Fetal anomalies v4.34 | SMARCD1 |
Achchuthan Shanmugasundram gene: SMARCD1 was added gene: SMARCD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to Coffin-Siris syndrome 11, OMIM:618779 |
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| Fetal anomalies v4.34 | SMAD6 |
Achchuthan Shanmugasundram gene: SMAD6 was added gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499 Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300 |
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| Fetal anomalies v4.34 | SMAD2 |
Achchuthan Shanmugasundram gene: SMAD2 was added gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657 |
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| Fetal anomalies v4.34 | SLC4A1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC4A1. Source NHS GMS was added to SLC4A1. Added phenotypes Ovalocytosis, SA type, OMIM:166900 for gene: SLC4A1 Publications for gene: SLC4A1 were updated from to 33082562; 24652967 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | SLC25A26 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC25A26. Source NHS GMS was added to SLC25A26. Added phenotypes Combined oxidative phosphorylation deficiency 28, OMIM:616794 for gene: SLC25A26 Publications for gene: SLC25A26 were updated from to 26522469; 33082562 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | SLC22A5 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC22A5. Source NHS GMS was added to SLC22A5. Publications for gene: SLC22A5 were updated from 10545605; 11261427 to 33082562; 10545605; 11261427 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | SKIV2L |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SKIV2L. Source NHS GMS was added to SKIV2L. Added phenotypes Trichohepatoenteric syndrome 2, OMIM:614602 for gene: SKIV2L Publications for gene: SKIV2L were updated from to 22444670; 27431780 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | SIN3A |
Achchuthan Shanmugasundram Source NHS GMS was added to SIN3A. Mode of inheritance for gene SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Witteveen-Kolk syndrome, OMIM:613406 for gene: SIN3A Publications for gene: SIN3A were updated from to 27399968 |
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| Fetal anomalies v4.34 | SHMT2 |
Achchuthan Shanmugasundram gene: SHMT2 was added gene: SHMT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 |
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| Fetal anomalies v4.34 | SF3B2 |
Achchuthan Shanmugasundram gene: SF3B2 was added gene: SF3B2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B2 were set to 34344887; 37555391 Phenotypes for gene: SF3B2 were set to Craniofacial microsomia, OMIM:164210 |
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| Fetal anomalies v4.34 | SERPINA11 |
Achchuthan Shanmugasundram Source NHS GMS was added to SERPINA11. Source Expert Review Red was added to SERPINA11. Added phenotypes SERPINA11-prenatal lethal disorder for gene: SERPINA11 Publications for gene: SERPINA11 were updated from 28749478; 31742715 to 33082562; 31742715; 28749478 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | SEMA3A |
Achchuthan Shanmugasundram gene: SEMA3A was added gene: SEMA3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA3A were set to 20301509; 22927827; 24124006; 33369061; 21059704; 28075028 Phenotypes for gene: SEMA3A were set to skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease |
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| Fetal anomalies v4.34 | SCNN1G |
Achchuthan Shanmugasundram gene: SCNN1G was added gene: SCNN1G was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 31522814; 11231969; 8640238; 7633160 Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126 |
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| Fetal anomalies v4.34 | SCNN1B |
Achchuthan Shanmugasundram gene: SCNN1B was added gene: SCNN1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNN1B were set to 8589714 Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, OMIM:264350 |
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| Fetal anomalies v4.34 | SCNN1A |
Achchuthan Shanmugasundram gene: SCNN1A was added gene: SCNN1A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1A were set to 8589714; 31301676 Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, OMIM:264350 |
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| Fetal anomalies v4.34 | SCN5A |
Achchuthan Shanmugasundram gene: SCN5A was added gene: SCN5A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 19419784; 22064211; 15184283 Phenotypes for gene: SCN5A were set to {Sudden infant death syndrome, susceptibility to}, OMIM:272120; Long QT syndrome 3, OMIM:603830 |
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| Fetal anomalies v4.34 | SCN3A |
Achchuthan Shanmugasundram Source NHS GMS was added to SCN3A. Mode of inheritance for gene SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development for gene: SCN3A Publications for gene: SCN3A were updated from to 29740860; 32515017; 30146301 |
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| Fetal anomalies v4.34 | SCAF4 |
Achchuthan Shanmugasundram gene: SCAF4 was added gene: SCAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to Fliedner-Zweier syndrome, OMIM:620511 |
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| Fetal anomalies v4.34 | RPL15 |
Achchuthan Shanmugasundram gene: RPL15 was added gene: RPL15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL15 were set to 23812780; 20301769; 29599205 Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, OMIM:615550; multiple congenital malformations; hydrops |
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| Fetal anomalies v4.34 | RNU12 |
Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 34085356 Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116 |
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| Fetal anomalies v4.34 | RNF125 |
Achchuthan Shanmugasundram gene: RNF125 was added gene: RNF125 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF125 were set to 25196541 Phenotypes for gene: RNF125 were set to Tenorio syndrome, OMIM:616260 |
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| Fetal anomalies v4.34 | RNF113A |
Achchuthan Shanmugasundram gene: RNF113A was added gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RNF113A were set to 25612912; 31793730; 31880405 Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 |
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| Fetal anomalies v4.34 | RLIM |
Achchuthan Shanmugasundram Source NHS GMS was added to RLIM. Mode of inheritance for gene RLIM 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) Added phenotypes Tonne-Kalscheuer syndrome, OMIM:300978 for gene: RLIM Publications for gene: RLIM were updated from to 29728705; 25735484; 25644381 |
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| Fetal anomalies v4.34 | RHOA |
Achchuthan Shanmugasundram gene: RHOA was added gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727 |
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| Fetal anomalies v4.34 | RHEB |
Achchuthan Shanmugasundram gene: RHEB was added gene: RHEB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHEB were set to 29051493; 31337748 Phenotypes for gene: RHEB were set to Macrocephaly; Intellectual disability; Focal cortical dysplasia |
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| Fetal anomalies v4.34 | RBP4 |
Achchuthan Shanmugasundram gene: RBP4 was added gene: RBP4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBP4 were set to 29178648; 25910211 Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, OMIM:616428 |
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| Fetal anomalies v4.34 | RAP1B |
Achchuthan Shanmugasundram gene: RAP1B was added gene: RAP1B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAP1B were set to 26280580; 32627184 Phenotypes for gene: RAP1B were set to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 |
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| Fetal anomalies v4.34 | RAD51 |
Achchuthan Shanmugasundram Source NHS GMS was added to RAD51. Mode of inheritance for gene RAD51 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Fanconi anaemia, complementation group R, MIM# 617244 for gene: RAD51 Publications for gene: RAD51 were updated from to 30907510; 26253028; 26681308 |
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| Fetal anomalies v4.34 | RAD50 |
Achchuthan Shanmugasundram gene: RAD50 was added gene: RAD50 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to 33378670; 32212377; 19409520 Phenotypes for gene: RAD50 were set to MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078 |
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| Fetal anomalies v4.34 | RAB11B |
Achchuthan Shanmugasundram Source NHS GMS was added to RAB11B. Mode of inheritance for gene RAB11B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 for gene: RAB11B Publications for gene: RAB11B were updated from to 29106825 |
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| Fetal anomalies v4.34 | PTPN23 |
Achchuthan Shanmugasundram gene: PTPN23 was added gene: PTPN23 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065; 31395947; 27848944 Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890 |
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| Fetal anomalies v4.34 | PRR12 |
Achchuthan Shanmugasundram gene: PRR12 was added gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRR12 were set to 29556724; 33314030 Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia |
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| Fetal anomalies v4.34 | PRF1 |
Achchuthan Shanmugasundram gene: PRF1 was added gene: PRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 19595804; 26199792; 30070073 Phenotypes for gene: PRF1 were set to Aplastic anaemia, OMIM:609135; Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 |
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| Fetal anomalies v4.34 | PPP3CA |
Achchuthan Shanmugasundram Source NHS GMS was added to PPP3CA. Mode of inheritance for gene PPP3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 for gene: PPP3CA Publications for gene: PPP3CA were updated from to 28942967; 33082562; 29432562 |
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| Fetal anomalies v4.34 | PPP2R3C |
Achchuthan Shanmugasundram gene: PPP2R3C was added gene: PPP2R3C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818 Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419 |
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| Fetal anomalies v4.34 | PPP2CA |
Achchuthan Shanmugasundram gene: PPP2CA was added gene: PPP2CA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2CA were set to 30595372 Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354 |
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| Fetal anomalies v4.34 | PPP1R13L |
Achchuthan Shanmugasundram gene: PPP1R13L was added gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28864777 Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 |
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| Fetal anomalies v4.34 | PPP1R12A |
Achchuthan Shanmugasundram gene: PPP1R12A was added gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to holoprosencephaly; disorder of sex development; Intellectual disability |
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| Fetal anomalies v4.34 | PPIL1 |
Achchuthan Shanmugasundram gene: PPIL1 was added gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301 |
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| Fetal anomalies v4.34 | POLD1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to POLD1. Source NHS GMS was added to POLD1. Mode of inheritance for gene POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 for gene: POLD1 Publications for gene: POLD1 were updated from to 23770608 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | PLEC |
Achchuthan Shanmugasundram gene: PLEC was added gene: PLEC was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEC were set to 28824526; 31509265; 22144912; 21263134; 21109228; 20624679 Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670 |
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| Fetal anomalies v4.34 | PKP2 |
Achchuthan Shanmugasundram gene: PKP2 was added gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP2 were set to 33082562 Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction |
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| Fetal anomalies v4.34 | PIGH |
Achchuthan Shanmugasundram gene: PIGH was added gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667 Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010 |
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| Fetal anomalies v4.34 | PIDD1 |
Achchuthan Shanmugasundram gene: PIDD1 was added gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074 Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827 |
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| Fetal anomalies v4.34 | PI4KA |
Achchuthan Shanmugasundram gene: PI4KA was added gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 |
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| Fetal anomalies v4.34 | PHF21A |
Achchuthan Shanmugasundram Source NHS GMS was added to PHF21A. Mode of inheritance for gene PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 for gene: PHF21A Publications for gene: PHF21A were updated from to 31649809; 30487643; 22770980 |
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| Fetal anomalies v4.34 | PHEX |
Achchuthan Shanmugasundram gene: PHEX was added gene: PHEX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHEX were set to 9106524; 16055933; 19219621; 29791829 Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, OMIM:307800 |
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| Fetal anomalies v4.34 | PDE6D |
Achchuthan Shanmugasundram gene: PDE6D was added gene: PDE6D was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 30423442; 24166846 Phenotypes for gene: PDE6D were set to Joubert syndrome 22, OMIM:615665 |
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| Fetal anomalies v4.34 | PDE3A |
Achchuthan Shanmugasundram gene: PDE3A was added gene: PDE3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to 25961942 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, OMIM:112410 |
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| Fetal anomalies v4.34 | PCDH12 |
Achchuthan Shanmugasundram gene: PCDH12 was added gene: PCDH12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 30178464; 27164683 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280 |
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| Fetal anomalies v4.34 | PAX1 |
Achchuthan Shanmugasundram gene: PAX1 was added gene: PAX1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 23851939; 29681087; 32111619 Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, OMIM:615560 |
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| Fetal anomalies v4.34 | PARP6 |
Achchuthan Shanmugasundram gene: PARP6 was added gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PARP6 were set to 34067418 Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy |
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| Fetal anomalies v4.34 | PAM16 |
Achchuthan Shanmugasundram gene: PAM16 was added gene: PAM16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAM16 were set to 27354339; 24786642 Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320 |
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| Fetal anomalies v4.34 | PACS2 |
Achchuthan Shanmugasundram gene: PACS2 was added gene: PACS2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACS2 were set to 29656858; 34894068; 34859793 Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66, OMIM:618067 |
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| Fetal anomalies v4.34 | PACS1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PACS1. Mode of inheritance for gene PACS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Schuurs-Hoeijmakers syndrome, OMIM:615009 for gene: PACS1 Publications for gene: PACS1 were updated from 30712880 to 30712880; 32672908; 23159249; 26842493 |
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| Fetal anomalies v4.34 | ORAI1 |
Achchuthan Shanmugasundram gene: ORAI1 was added gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ORAI1 were set to 31448844 Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883 |
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| Fetal anomalies v4.34 | NUP188 |
Achchuthan Shanmugasundram gene: NUP188 was added gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 28726809; 32021605; 32275884 Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract |
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| Fetal anomalies v4.34 | NSRP1 |
Achchuthan Shanmugasundram gene: NSRP1 was added gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSRP1 were set to 34385670 Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001 |
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| Fetal anomalies v4.34 | NSD2 |
Achchuthan Shanmugasundram gene: NSD2 was added gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 31171569; 30345613 Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695 |
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| Fetal anomalies v4.34 | NPRL3 |
Achchuthan Shanmugasundram gene: NPRL3 was added gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051 Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118 |
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| Fetal anomalies v4.34 | NPRL2 |
Achchuthan Shanmugasundram gene: NPRL2 was added gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085 Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116 |
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| Fetal anomalies v4.34 | NPL |
Achchuthan Shanmugasundram gene: NPL was added gene: NPL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPL were set to 33082562 Phenotypes for gene: NPL were set to Sialic aciduria |
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| Fetal anomalies v4.34 | NOVA2 |
Achchuthan Shanmugasundram Source NHS GMS was added to NOVA2. Mode of inheritance for gene NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 for gene: NOVA2 Publications for gene: NOVA2 were updated from to 32197073 |
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| Fetal anomalies v4.34 | NONO |
Achchuthan Shanmugasundram Source NHS GMS was added to NONO. Mode of inheritance for gene NONO 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) Added phenotypes Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220 |
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| Fetal anomalies v4.34 | NLRP3 |
Achchuthan Shanmugasundram gene: NLRP3 was added gene: NLRP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 12928894; 12483741; 12032915 Phenotypes for gene: NLRP3 were set to CINCA syndrome, OMIM:607115 |
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| Fetal anomalies v4.34 | NKX2-6 |
Achchuthan Shanmugasundram gene: NKX2-6 was added gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965 Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095 |
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| Fetal anomalies v4.34 | NID1 |
Achchuthan Shanmugasundram gene: NID1 was added gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478 Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele |
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| Fetal anomalies v4.34 | NFIB |
Achchuthan Shanmugasundram gene: NFIB was added gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIB were set to 30388402; 32902921; 33130023 Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286 |
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| Fetal anomalies v4.34 | NFIA |
Achchuthan Shanmugasundram gene: NFIA was added gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697 Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735 |
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| Fetal anomalies v4.34 | NEXN |
Achchuthan Shanmugasundram Source NHS GMS was added to NEXN. Mode of inheritance for gene NEXN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NEXN were updated from 32058062; 33027564 to 33947203; 32058062; 35166435; 33027564; 33949776 |
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| Fetal anomalies v4.34 | NCAPD2 |
Achchuthan Shanmugasundram gene: NCAPD2 was added gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPD2 were set to 27737959; 28097321; 31056748 Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM:617983 |
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| Fetal anomalies v4.34 | NAA15 |
Achchuthan Shanmugasundram Source NHS GMS was added to NAA15. Mode of inheritance for gene NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 for gene: NAA15 Publications for gene: NAA15 were updated from to 31127942; 33557580 |
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| Fetal anomalies v4.34 | MYSM1 |
Achchuthan Shanmugasundram gene: MYSM1 was added gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 33082562 Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116 |
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| Fetal anomalies v4.34 | MYBPC3 |
Achchuthan Shanmugasundram Source NHS GMS was added to MYBPC3. Mode of inheritance for gene MYBPC3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cardiomyopathy, hypertrophic, 4, OMIM:115197 for gene: MYBPC3 Publications for gene: MYBPC3 were updated from 19858127; 28749478 to 19858127; 16679492; 28749478; 17937428 |
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| Fetal anomalies v4.34 | MVK |
Achchuthan Shanmugasundram gene: MVK was added gene: MVK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27012807; 16722536 Phenotypes for gene: MVK were set to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377 |
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| Fetal anomalies v4.34 | MTX2 |
Achchuthan Shanmugasundram gene: MTX2 was added gene: MTX2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTX2 were set to 32917887 Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 |
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| Fetal anomalies v4.34 | MT-TL1 |
Achchuthan Shanmugasundram gene: MT-TL1 was added gene: MT-TL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 33082562 Phenotypes for gene: MT-TL1 were set to Mitochondrial tRNA deficiency |
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| Fetal anomalies v4.34 | MT-TE |
Achchuthan Shanmugasundram gene: MT-TE was added gene: MT-TE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL Publications for gene: MT-TE were set to 33082562; 17161635 Phenotypes for gene: MT-TE were set to Mitochondrial tRNA deficiency |
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| Fetal anomalies v4.34 | MPZ |
Achchuthan Shanmugasundram Source Expert Review Amber was added to MPZ. Source NHS GMS was added to MPZ. Mode of inheritance for gene MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Hypomyelinating neuropathy, congenital, 2, OMIM:618184 for gene: MPZ Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | MPDZ |
Achchuthan Shanmugasundram gene: MPDZ was added gene: MPDZ was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to 29499638; 30518636; 23240096; 28556411 Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 |
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| Fetal anomalies v4.34 | MNS1 |
Achchuthan Shanmugasundram gene: MNS1 was added gene: MNS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNS1 were set to 30148830; 31534215 Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 |
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| Fetal anomalies v4.34 | MINPP1 |
Achchuthan Shanmugasundram gene: MINPP1 was added gene: MINPP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MINPP1 were set to 33168985; 33257696 Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, OMIM:619527 |
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| Fetal anomalies v4.34 | MGAT2 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to MGAT2. Source NHS GMS was added to MGAT2. Added phenotypes Congenital disorder of glycosylation, type Iia, OMIM:212066 for gene: MGAT2 Publications for gene: MGAT2 were updated from to 33082562 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | MED27 |
Achchuthan Shanmugasundram gene: MED27 was added gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 |
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| Fetal anomalies v4.34 | MED25 |
Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 32324310; 25792360; 32816121 Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 |
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| Fetal anomalies v4.34 | MCIDAS |
Achchuthan Shanmugasundram gene: MCIDAS was added gene: MCIDAS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCIDAS were set to 25048963; 32802948; 30237576 Phenotypes for gene: MCIDAS were set to Hydrocephalus; Ciliary dyskinesia, primary, 42, OMIM:618695; Choroid plexus hyperplasia; Arachnoid cyst |
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| Fetal anomalies v4.34 | MBTPS1 |
Achchuthan Shanmugasundram gene: MBTPS1 was added gene: MBTPS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013 Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392 |
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| Fetal anomalies v4.34 | MAST1 |
Achchuthan Shanmugasundram gene: MAST1 was added gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657 Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827 |
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| Fetal anomalies v4.34 | MAPKAPK5 |
Achchuthan Shanmugasundram gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 35575217; 33442026 Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869 |
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| Fetal anomalies v4.34 | MAPK8IP3 |
Achchuthan Shanmugasundram gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to 30945334; 30612693 Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria |
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| Fetal anomalies v4.34 | MAPK1 |
Achchuthan Shanmugasundram gene: MAPK1 was added gene: MAPK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, OMIM:619087 |
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| Fetal anomalies v4.34 | MAP1B |
Achchuthan Shanmugasundram gene: MAP1B was added gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071 Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918 |
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| Fetal anomalies v4.34 | MAN2C1 |
Achchuthan Shanmugasundram gene: MAN2C1 was added gene: MAN2C1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2C1 were set to 35045343 Phenotypes for gene: MAN2C1 were set to Congenital disorder of deglycosylation 2, MIM# 619775 |
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| Fetal anomalies v4.34 | MAB21L1 |
Achchuthan Shanmugasundram gene: MAB21L1 was added gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 30487245 Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479 |
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| Fetal anomalies v4.34 | LTBP1 |
Achchuthan Shanmugasundram gene: LTBP1 was added gene: LTBP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP1 were set to 33991472 Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451 |
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| Fetal anomalies v4.34 | LAGE3 |
Achchuthan Shanmugasundram gene: LAGE3 was added gene: LAGE3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAGE3 were set to 31069511; 28805828 Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, OMIM:301006 |
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| Fetal anomalies v4.34 | KIF4A |
Achchuthan Shanmugasundram gene: KIF4A was added gene: KIF4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 34346154; 30679815; 24812067 Phenotypes for gene: KIF4A were set to Hydrocephalus; Intellectual developmental disorder, X-linked 100, OMIM:300923 |
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| Fetal anomalies v4.34 | KIF21B |
Achchuthan Shanmugasundram gene: KIF21B was added gene: KIF21B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21B were set to 32415109 Phenotypes for gene: KIF21B were set to Global developmental delay; Neurodevelopmental disorder, MONDO:0700092; Intellectual disability; Abnormality of brain morphology; Microcephaly |
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| Fetal anomalies v4.34 | KIAA0825 |
Achchuthan Shanmugasundram gene: KIAA0825 was added gene: KIAA0825 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0825 were set to 30982135; 32147526; 33776623 Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, OMIM:618498 |
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| Fetal anomalies v4.34 | KIAA0556 |
Achchuthan Shanmugasundram gene: KIAA0556 was added gene: KIAA0556 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA0556 were set to 27245168; 26714646 Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, OMIM:616784 |
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| Fetal anomalies v4.34 | KDM1A |
Achchuthan Shanmugasundram Source NHS GMS was added to KDM1A. Mode of inheritance for gene KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 for gene: KDM1A Publications for gene: KDM1A were updated from to 27094131; 24838796; 26656649 |
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| Fetal anomalies v4.34 | KCNQ1 |
Achchuthan Shanmugasundram Source NHS GMS was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Long QT syndrome 1, OMIM:192500 for gene: KCNQ1 Publications for gene: KCNQ1 were updated from to 27539165 |
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| Fetal anomalies v4.34 | KCNJ8 |
Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ8. Mode of inheritance for gene KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 25275207; 24700710; 24176758 |
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| Fetal anomalies v4.34 | KCNH1 |
Achchuthan Shanmugasundram Source NHS GMS was added to KCNH1. Mode of inheritance for gene KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 for gene: KCNH1 Publications for gene: KCNH1 were updated from to 33811134 |
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| Fetal anomalies v4.34 | KAT5 |
Achchuthan Shanmugasundram gene: KAT5 was added gene: KAT5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT5 were set to 32822602 Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103 |
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| Fetal anomalies v4.34 | IQCE |
Achchuthan Shanmugasundram gene: IQCE was added gene: IQCE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQCE were set to 28488682; 31549751 Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642 |
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| Fetal anomalies v4.34 | INTS1 |
Achchuthan Shanmugasundram gene: INTS1 was added gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 31428919; 30622326 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857 |
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| Fetal anomalies v4.34 | IKZF1 |
Achchuthan Shanmugasundram gene: IKZF1 was added gene: IKZF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 33082562 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, OMIM:616873 |
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| Fetal anomalies v4.34 | IFT74 |
Achchuthan Shanmugasundram gene: IFT74 was added gene: IFT74 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 32144365; 27486776; 33531668 Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 22, OMIM:617119; Joubert syndrome 40, OMIM:619582 |
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| Fetal anomalies v4.34 | IFT27 |
Achchuthan Shanmugasundram gene: IFT27 was added gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996 |
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| Fetal anomalies v4.34 | HYAL2 |
Achchuthan Shanmugasundram gene: HYAL2 was added gene: HYAL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 23172227; 28081210; 26515055; 34906488 Phenotypes for gene: HYAL2 were set to congenital cardiac malformations; Cleft lip and palate; cor triatriatum |
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| Fetal anomalies v4.34 | HSPA9 |
Achchuthan Shanmugasundram gene: HSPA9 was added gene: HSPA9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 26598328; 26491070; 32869452 Phenotypes for gene: HSPA9 were set to Anemia, sideroblastic, 4, OMIM:182170; Even-plus syndrome, OMIM:616854 |
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| Fetal anomalies v4.34 | HS2ST1 |
Achchuthan Shanmugasundram gene: HS2ST1 was added gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies |
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| Fetal anomalies v4.34 | HOXA2 |
Achchuthan Shanmugasundram gene: HOXA2 was added gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444 Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290 |
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| Fetal anomalies v4.34 | HMGB1 |
Achchuthan Shanmugasundram gene: HMGB1 was added gene: HMGB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGB1 were set to 34164801 Phenotypes for gene: HMGB1 were set to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; intellectual disability; microcephaly |
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| Fetal anomalies v4.34 | HK1 |
Achchuthan Shanmugasundram gene: HK1 was added gene: HK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HK1 were set to 33082562 Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 |
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| Fetal anomalies v4.34 | HIST1H4C |
Achchuthan Shanmugasundram Source NHS GMS was added to HIST1H4C. Mode of inheritance for gene HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 for gene: HIST1H4C Publications for gene: HIST1H4C were updated from to 28920961; 35202563 |
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| Fetal anomalies v4.34 | HHAT |
Achchuthan Shanmugasundram gene: HHAT was added gene: HHAT was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 33749989; 30912300; 24784881 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092 |
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| Fetal anomalies v4.34 | HERC1 |
Achchuthan Shanmugasundram gene: HERC1 was added gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217 Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011 |
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| Fetal anomalies v4.34 | H3F3A |
Achchuthan Shanmugasundram Source Expert Review Amber was added to H3F3A. Source NHS GMS was added to H3F3A. Mode of inheritance for gene H3F3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 for gene: H3F3A Publications for gene: H3F3A were updated from to 33268356 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | GTPBP2 |
Achchuthan Shanmugasundram gene: GTPBP2 was added gene: GTPBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 29449720; 30790272; 26675814 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, OMIM:617988 |
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| Fetal anomalies v4.34 | GRM7 |
Achchuthan Shanmugasundram gene: GRM7 was added gene: GRM7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 32286009; 32248644 Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 |
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| Fetal anomalies v4.34 | GLMN |
Achchuthan Shanmugasundram Source Expert Review Amber was added to GLMN. Source NHS GMS was added to GLMN. Mode of inheritance for gene GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glomulovenous malformations, OMIM:138000 for gene: GLMN Publications for gene: GLMN were updated from to 33082562; 23801931 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | GHR |
Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR. Source NHS GMS was added to GHR. Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR Publications for gene: GHR were updated from to 9360502 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | GDF11 |
Achchuthan Shanmugasundram gene: GDF11 was added gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF11 were set to 31215115; 34113007 Phenotypes for gene: GDF11 were set to ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122 |
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| Fetal anomalies v4.34 | GATA5 |
Achchuthan Shanmugasundram gene: GATA5 was added gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATA5 were set to 33082562 Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912 |
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| Fetal anomalies v4.34 | GABRB2 |
Achchuthan Shanmugasundram Source NHS GMS was added to GABRB2. Mode of inheritance for gene GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Developmental and epileptic encephalopathy 92, OMIM:617829 for gene: GABRB2 Publications for gene: GABRB2 were updated from to 33325057; 27789573; 29100083 |
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| Fetal anomalies v4.34 | G6PD |
Achchuthan Shanmugasundram gene: G6PD was added gene: G6PD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: G6PD were set to 33082562 Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), OMIM:300908 |
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| Fetal anomalies v4.34 | FRMPD4 |
Achchuthan Shanmugasundram Source NHS GMS was added to FRMPD4. Source Expert Review Red was added to FRMPD4. Added phenotypes Intellectual Disability, X-linked 104, OMIM:300983 for gene: FRMPD4 Publications for gene: FRMPD4 were updated from to 25644381; 29267967 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 |
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| Fetal anomalies v4.34 | FOXJ1 |
Achchuthan Shanmugasundram gene: FOXJ1 was added gene: FOXJ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 31630787 Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43, OMIM:618699 |
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| Fetal anomalies v4.34 | FGF9 |
Achchuthan Shanmugasundram Source NHS GMS was added to FGF9. Mode of inheritance for gene FGF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Multiple synostoses syndrome 3, OMIM:612961 for gene: FGF9 Publications for gene: FGF9 were updated from to 33174625; 19589401; 28730625; 33140402; 19219044 |
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| Fetal anomalies v4.34 | FBXW11 |
Achchuthan Shanmugasundram gene: FBXW11 was added gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW11 were set to 31402090 Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914 |
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| Fetal anomalies v4.34 | FBRSL1 |
Achchuthan Shanmugasundram gene: FBRSL1 was added gene: FBRSL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBRSL1 were set to 32424618; 34805182 Phenotypes for gene: FBRSL1 were set to congenital heart defect; Congenital malformations |
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| Fetal anomalies v4.34 | FAT1 |
Achchuthan Shanmugasundram gene: FAT1 was added gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798 Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies |
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| Fetal anomalies v4.34 | FAM149B1 |
Achchuthan Shanmugasundram gene: FAM149B1 was added gene: FAM149B1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 30905400 Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, OMIM:618763 |
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| Fetal anomalies v4.34 | EXOSC9 |
Achchuthan Shanmugasundram gene: EXOSC9 was added gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687 Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065 |
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| Fetal anomalies v4.34 | EXOSC8 |
Achchuthan Shanmugasundram gene: EXOSC8 was added gene: EXOSC8 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 34210538 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081 |
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| Fetal anomalies v4.34 | EXOSC5 |
Achchuthan Shanmugasundram gene: EXOSC5 was added gene: EXOSC5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC5 were set to 32504085; 29302074 Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576 |
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| Fetal anomalies v4.34 | EXOC7 |
Achchuthan Shanmugasundram gene: EXOC7 was added gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC7 were set to 32103185 Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072 |
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| Fetal anomalies v4.34 | ERGIC1 |
Achchuthan Shanmugasundram gene: ERGIC1 was added gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256 Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100 |
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| Fetal anomalies v4.34 | ERBB3 |
Achchuthan Shanmugasundram gene: ERBB3 was added gene: ERBB3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042 Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, OMIM:607598 |
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| Fetal anomalies v4.34 | EMC1 |
Achchuthan Shanmugasundram Source NHS GMS was added to EMC1. Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1 Publications for gene: EMC1 were updated from to 29271071; 26942288 |
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| Fetal anomalies v4.34 | EIF3F |
Achchuthan Shanmugasundram gene: EIF3F was added gene: EIF3F was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF3F were set to 33736665 Phenotypes for gene: EIF3F were set to Intellectual developmental disorder, autosomal recessive 67, OMIM:618295 |
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| Fetal anomalies v4.34 | EFEMP2 |
Achchuthan Shanmugasundram gene: EFEMP2 was added gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 19664000; 23532871; 31548410; 30140196 Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, OMIM:614437 |
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| Fetal anomalies v4.34 | EEF2 |
Achchuthan Shanmugasundram gene: EEF2 was added gene: EEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to hydrocephalus; Neurodevelopmental disorder; macrocephaly |
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| Fetal anomalies v4.34 | EDN3 |
Achchuthan Shanmugasundram gene: EDN3 was added gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849 Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712 |
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| Fetal anomalies v4.34 | DYNC1I2 |
Achchuthan Shanmugasundram gene: DYNC1I2 was added gene: DYNC1I2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC1I2 were set to 31079899 Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 |
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| Fetal anomalies v4.34 | DYNC1I1 |
Achchuthan Shanmugasundram gene: DYNC1I1 was added gene: DYNC1I1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1I1 were set to 32219838; 25231166; 22914741 Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM) |
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| Fetal anomalies v4.34 | DPF2 |
Achchuthan Shanmugasundram Source NHS GMS was added to DPF2. Mode of inheritance for gene DPF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coffin-Siris syndrome 7, OMIM:618027 for gene: DPF2 Publications for gene: DPF2 were updated from to 29429572; 31706665 |
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| Fetal anomalies v4.34 | DLL1 |
Achchuthan Shanmugasundram gene: DLL1 was added gene: DLL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 |
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| Fetal anomalies v4.34 | DICER1 |
Achchuthan Shanmugasundram gene: DICER1 was added gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654 Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200 |
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| Fetal anomalies v4.34 | DEAF1 |
Achchuthan Shanmugasundram Source NHS GMS was added to DEAF1. Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 for gene: DEAF1 Publications for gene: DEAF1 were updated from to 28940898; 30923367; 26048982; 24726472; 26834045 |
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| Fetal anomalies v4.34 | DDX6 |
Achchuthan Shanmugasundram Source NHS GMS was added to DDX6. Source Expert Review Red was added to DDX6. Mode of inheritance for gene DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 for gene: DDX6 Publications for gene: DDX6 were updated from to 31422817 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | D2HGDH |
Achchuthan Shanmugasundram gene: D2HGDH was added gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721 |
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| Fetal anomalies v4.34 | CYBB |
Achchuthan Shanmugasundram gene: CYBB was added gene: CYBB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CYBB were set to 16795136; 33082562 Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, OMIM:306400 |
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| Fetal anomalies v4.34 | CWF19L1 |
Achchuthan Shanmugasundram gene: CWF19L1 was added gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 27016154 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127 |
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| Fetal anomalies v4.34 | CTNNA2 |
Achchuthan Shanmugasundram gene: CTNNA2 was added gene: CTNNA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 |
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| Fetal anomalies v4.34 | COLGALT1 |
Achchuthan Shanmugasundram gene: COLGALT1 was added gene: COLGALT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 31759980; 30412317; 33709034 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, MIM# 618360 |
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| Fetal anomalies v4.34 | COL9A3 |
Achchuthan Shanmugasundram Source NHS GMS was added to COL9A3. Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Stickler syndrome, type VI, OMIM:620022 for gene: COL9A3 Publications for gene: COL9A3 were updated from to 15551337; 31090205; 25381065; 24273071; 33570243; 30450842 |
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| Fetal anomalies v4.34 | COL27A1 |
Achchuthan Shanmugasundram gene: COL27A1 was added gene: COL27A1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503 Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155 |
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| Fetal anomalies v4.34 | COL25A1 |
Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1. Source Expert Review Red was added to COL25A1. Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1 Publications for gene: COL25A1 were updated from to 26437029; 35077597 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | COA7 |
Achchuthan Shanmugasundram gene: COA7 was added gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387 |
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| Fetal anomalies v4.34 | CLTC |
Achchuthan Shanmugasundram Source NHS GMS was added to CLTC. Mode of inheritance for gene CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLTC were updated from 33743358 to 33743358; 26822784; 31776469; 34230591; 29100083 |
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| Fetal anomalies v4.34 | CLMP |
Achchuthan Shanmugasundram Source NHS GMS was added to CLMP. Source Expert Review Red was added to CLMP. Added phenotypes Congenital short bowel syndrome, OMIM:615237 for gene: CLMP Publications for gene: CLMP were updated from to 22155368 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | CITED2 |
Achchuthan Shanmugasundram gene: CITED2 was added gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552 Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease |
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| Fetal anomalies v4.34 | CFAP52 |
Achchuthan Shanmugasundram gene: CFAP52 was added gene: CFAP52 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP52 were set to 33139725; 25469542 Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607 |
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| Fetal anomalies v4.34 | CFAP45 |
Achchuthan Shanmugasundram gene: CFAP45 was added gene: CFAP45 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP45 were set to 33139725 Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608 |
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| Fetal anomalies v4.34 | CEP85L |
Achchuthan Shanmugasundram gene: CEP85L was added gene: CEP85L was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant, OMIM:618873 |
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| Fetal anomalies v4.34 | CAPN15 |
Achchuthan Shanmugasundram gene: CAPN15 was added gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237 Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 |
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| Fetal anomalies v4.34 | CALCRL |
Achchuthan Shanmugasundram Source Expert Review Amber was added to CALCRL. Source NHS GMS was added to CALCRL. Publications for gene: CALCRL were updated from 30115739; 16537897 to 33082562; 30115739; 16537897 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | CACNA1A |
Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1A. Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 for gene: CACNA1A Publications for gene: CACNA1A were updated from to 27476654 |
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| Fetal anomalies v4.34 | C2orf69 |
Achchuthan Shanmugasundram gene: C2orf69 was added gene: C2orf69 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 33945503; 34038740 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423 |
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| Fetal anomalies v4.34 | BRF1 |
Achchuthan Shanmugasundram gene: BRF1 was added gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 27748960; 25561519 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202 |
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| Fetal anomalies v4.34 | BRD4 |
Achchuthan Shanmugasundram gene: BRD4 was added gene: BRD4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRD4 were set to 34035299; 30302754; 29379197; 11997514 Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome 6, OMIM:620568 |
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| Fetal anomalies v4.34 | BRCA1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to BRCA1. Source NHS GMS was added to BRCA1. Added phenotypes Fanconi anaemia, complementation group S, OMIM:617883 for gene: BRCA1 Publications for gene: BRCA1 were updated from to 29712865; 29133208; 34680915 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | BCAS3 |
Achchuthan Shanmugasundram gene: BCAS3 was added gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, OMIM:619641 |
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| Fetal anomalies v4.34 | AUTS2 |
Achchuthan Shanmugasundram Source NHS GMS was added to AUTS2. Mode of inheritance for gene AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were updated from to 23332918; 25205402; 31474318 |
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| Fetal anomalies v4.34 | ATP6V1B2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ATP6V1B2. Source Expert Review Red was added to ATP6V1B2. Mode of inheritance for gene ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 for gene: ATP6V1B2 Publications for gene: ATP6V1B2 were updated from to 28396750; 24913193; 25915598 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | ATP1A3 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to ATP1A3. Source NHS GMS was added to ATP1A3. Mode of inheritance for gene ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Polymicrogyria; Developmental and epileptic encephalopathy 99, OMIM:619606 for gene: ATP1A3 Publications for gene: ATP1A3 were updated from to 33880529; 33762331 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.34 | ATP11C |
Achchuthan Shanmugasundram gene: ATP11C was added gene: ATP11C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP11C were set to 33082562 Phenotypes for gene: ATP11C were set to ?Hemolytic anemia, congenital, X-linked, OMIM:301015 |
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| Fetal anomalies v4.34 | ATN1 |
Achchuthan Shanmugasundram gene: ATN1 was added gene: ATN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATN1 were set to 30827498; 34212383 Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 |
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| Fetal anomalies v4.34 | ATAD1 |
Achchuthan Shanmugasundram gene: ATAD1 was added gene: ATAD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 29390050; 29659736; 28180185 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, OMIM:618011 |
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| Fetal anomalies v4.34 | ASXL2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ASXL2. Mode of inheritance for gene ASXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2 Publications for gene: ASXL2 were updated from to 27693232; 33751773 |
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| Fetal anomalies v4.34 | ARL3 |
Achchuthan Shanmugasundram gene: ARL3 was added gene: ARL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812; 16565502 Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:618161 |
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| Fetal anomalies v4.34 | ARID2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ARID2. Mode of inheritance for gene ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coffin-Siris syndrome 6, OMIM:617808 for gene: ARID2 Publications for gene: ARID2 were updated from to 28884947; 26238514; 35813374; 30838730; 28124119; 29698805 |
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| Fetal anomalies v4.34 | ARF1 |
Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARF1 were set to 28868155; 34353862 Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185 |
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| Fetal anomalies v4.34 | APC2 |
Achchuthan Shanmugasundram gene: APC2 was added gene: APC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC2 were set to 31585108 Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677 |
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| Fetal anomalies v4.34 | ANKRD17 |
Achchuthan Shanmugasundram gene: ANKRD17 was added gene: ANKRD17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504 |
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| Fetal anomalies v4.34 | ANKLE2 |
Achchuthan Shanmugasundram gene: ANKLE2 was added gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071 Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681 |
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| Fetal anomalies v4.34 | ANGPT2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ANGPT2. Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2 |
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| Fetal anomalies v4.34 | AMBRA1 |
Achchuthan Shanmugasundram Source NHS GMS was added to AMBRA1. Source Expert Review Red was added to AMBRA1. Publications for gene: AMBRA1 were updated from 17589504; 32333458 to 32333458; 17589504 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | ALPK3 |
Achchuthan Shanmugasundram gene: ALPK3 was added gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 26846950; 28630369 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052 |
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| Fetal anomalies v4.34 | ALG14 |
Achchuthan Shanmugasundram gene: ALG14 was added gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036 |
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| Fetal anomalies v4.34 | ALDH1A2 |
Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183; 36263470 Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025 |
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| Fetal anomalies v4.34 | ALB |
Achchuthan Shanmugasundram gene: ALB was added gene: ALB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALB were set to 31057599; 15300429; 23730173 Phenotypes for gene: ALB were set to Analbuminemia, OMIM:616000 |
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| Fetal anomalies v4.34 | AIMP1 |
Achchuthan Shanmugasundram Source NHS GMS was added to AIMP1. Source Expert Review Red was added to AIMP1. Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1 Publications for gene: AIMP1 were updated from to 32531460; 33402283; 21092922; 24958424; 30477741; 30486714; 26173967 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | AFF3 |
Achchuthan Shanmugasundram Source NHS GMS was added to AFF3. Mode of inheritance for gene AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes KINSSHIP syndrome, OMIM:619297 for gene: AFF3 Publications for gene: AFF3 were updated from to 31388108; 33961779 |
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| Fetal anomalies v4.34 | ADCY6 |
Achchuthan Shanmugasundram gene: ADCY6 was added gene: ADCY6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 33820833; 26257172; 24319099; 31846058 Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM:616287; MONDO:0014570 |
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| Fetal anomalies v4.34 | ADAMTS19 |
Achchuthan Shanmugasundram gene: ADAMTS19 was added gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 31844321; 32323311 Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067 |
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| Fetal anomalies v4.34 | ACVRL1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ACVRL1. Mode of inheritance for gene ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVRL1 were updated from 27381467; 32170914 to 21988128; 26126400; 27381467; 32170914 |
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| Fetal anomalies v4.34 | ACVR1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ACVR1. Mode of inheritance for gene ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1 Publications for gene: ACVR1 were updated from to 16642017; 29089047 |
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| Fetal anomalies v4.34 | ACSL4 |
Achchuthan Shanmugasundram Source NHS GMS was added to ACSL4. Source Expert Review Red was added to ACSL4. Added phenotypes Mental retardation, X-linked 63 , OMIM:300387 for gene: ACSL4 Publications for gene: ACSL4 were updated from to 12525535 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v4.34 | ABHD16A |
Achchuthan Shanmugasundram gene: ABHD16A was added gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735 |
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| Parkinson Disease and Complex Parkinsonism v1.126 | ARSA | Sarah Leigh Publications for gene: ARSA were set to 37381728; 31312839 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.125 | ARSA | Sarah Leigh Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.3 | ARSA | Sarah Leigh Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, OMIM:250100 to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.124 | ARSA | Sarah Leigh Classified gene: ARSA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.124 | ARSA | Sarah Leigh Gene: arsa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.123 | ARSA | Sarah Leigh Publications for gene: ARSA were set to PMID: 37381728 PMID: 31312839 PMID: 31312839 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.122 | ARSA | Sarah Leigh Classified gene: ARSA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.122 | ARSA | Sarah Leigh Gene: arsa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.2 | ARSA | Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.2 | ARSA | Sarah Leigh Publications for gene: ARSA were set to 20301334 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.1 | ARSA | Sarah Leigh reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.14 | ARSA |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSA. Tag Q3_24_NHS_review tag was added to gene: ARSA. |
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| Hereditary neuropathy or pain disorder v5.14 | ARSA | Sarah Leigh Publications for gene: ARSA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.13 | ARSA | Sarah Leigh reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1670590, 9600244, 1673291, 1684088; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.13 | ARSA | Sarah Leigh Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100 to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.12 | APTX |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: APTX. Tag Q3_24_NHS_review tag was added to gene: APTX. |
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| Hereditary neuropathy or pain disorder v5.12 | APTX | Sarah Leigh reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.12 | APTX | Sarah Leigh Publications for gene: APTX were set to 11176957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.11 | APTX | Sarah Leigh Phenotypes for gene: APTX were changed from Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, OMIM:208920; ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MONDO:0008842 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.4 | DPP6 | Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.4 | DPP6 | Sarah Leigh edited their review of gene: DPP6: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.4 | DPP6 |
Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will made red. |
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| Severe microcephaly v6.4 | DPP6 | Sarah Leigh Classified gene: DPP6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.4 | DPP6 | Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.22 | DPP6 | Sarah Leigh Classified gene: DPP6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.22 | DPP6 | Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.21 | DPP6 | Sarah Leigh Classified gene: DPP6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.21 | DPP6 | Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.20 | DPP6 |
Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain red. |
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| Severe microcephaly v6.3 | DPP6 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: DPP6. Tag Q3_24_expert_review was removed from gene: DPP6. |
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| Intellectual disability v7.20 | DPP6 | Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.3 | DPP6 |
Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber. |
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| Severe microcephaly v6.3 | DPP6 | Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.20 | DPP6 |
Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber. |
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| Severe microcephaly v6.3 | DPP6 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.20 | DPP6 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: DPP6. Tag Q3_24_expert_review was removed from gene: DPP6. |
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| Intellectual disability v7.20 | DPP6 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.20 | DPP6 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DPP6. Tag Q3_24_expert_review tag was added to gene: DPP6. |
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| Severe microcephaly v6.3 | DPP6 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DPP6. Tag Q3_24_expert_review tag was added to gene: DPP6. |
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| Intellectual disability v7.20 | DPP6 | Sarah Leigh Classified gene: DPP6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.20 | DPP6 | Sarah Leigh Added comment: Comment on list classification: Although only two DPP6 variants have so far been associated with OMIM:616311 (PMID:23832105), I feel that the mouse model evidence from three studies provides evidence to support the association between DPP6 variants and microcephaly and intellectual disability (PMID: 21943606; 23832105; 29651237). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.20 | DPP6 | Sarah Leigh Gene: dpp6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.3 | DPP6 | Sarah Leigh Classified gene: DPP6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.3 | DPP6 | Sarah Leigh Added comment: Comment on list classification: Although only two DPP6 variants have so far been associated with OMIM:616311 (PMID:23832105), I feel that the mouse model evidence from three studies provides evidence to support the association between DPP6 variants and microcephaly and intellectual disability (PMID: 21943606; 23832105; 29651237). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.3 | DPP6 | Sarah Leigh Gene: dpp6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.19 | DPP6 | Sarah Leigh Publications for gene: DPP6 were set to 23832105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.2 | DPP6 | Sarah Leigh Publications for gene: DPP6 were set to 23832105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.18 | DPP6 | Sarah Leigh edited their review of gene: DPP6: Added comment: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.1 | DPP6 | Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.1 | DPP6 | Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviors characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.1 | DPP6 | Sarah Leigh reviewed gene: DPP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.18 | PLEKHG2 |
Sarah Leigh Tag watchlist was removed from gene: PLEKHG2. Tag Q3_24_promote_green tag was added to gene: PLEKHG2. |
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| Intellectual disability v7.18 | PLEKHG2 | Sarah Leigh changed review comment from: Three biallelic PLEKHG2 missense variants have been identified in three unrelated families with individuals who have neurological disorders (PMID: 26539891, 26573021, 34326120).; to: Three biallelic PLEKHG2 missense variants have been identified in three unrelated families, in individuals who have Leukodystrophy and acquired microcephaly with or without dystonia (OMIM:616763)(PMID: 26539891, 26573021, 34326120). Segregation of the variant and the condition has been demonstrated in two of these families (PMID: 26573021, 34326120) and functional studies show that although PLEKHG2 gene expression is not affected, the resultant variant peptide has a reduced effect (PMID: 26573021, 35203342). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | IL27RA |
Boaz Palterer gene: IL27RA was added gene: IL27RA was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL27RA were set to 38509369 Phenotypes for gene: IL27RA were set to Severe EBV infection Penetrance for gene: IL27RA were set to unknown Review for gene: IL27RA was set to RED Added comment: Martin et al described 3 patients from two kindreds with homozygous IL27RA deficiency, presenting with severe primo EBV infection. Extensive ex vivo and in vitro data, including mice model. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | TMEFF1 |
Boaz Palterer gene: TMEFF1 was added gene: TMEFF1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEFF1 were set to 39048823; 39048830 Phenotypes for gene: TMEFF1 were set to Herpes encephalitis; HSE Penetrance for gene: TMEFF1 were set to unknown Review for gene: TMEFF1 was set to GREEN Added comment: Chan et al described 2 patients from unrelated kindreds with homozygous LOF variants in TMEFF1 presenting with HSE. Extensive ex vivo and in vitro data, including mice model. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | FLT3LG |
Boaz Palterer gene: FLT3LG was added gene: FLT3LG was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLT3LG were set to 38701783 Phenotypes for gene: FLT3LG were set to Immunodeficiency; warts Penetrance for gene: FLT3LG were set to unknown Review for gene: FLT3LG was set to AMBER Added comment: Momenilandi et al. described three patients homozygous for a loss-of-function FLT3LG variant, with a history of various recurrent infections, including severe cutaneous warts. Extensive functional ex vivo and in vitro data. Sources: Literature |
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| Ectodermal dysplasia v3.29 | FOSL2 |
Dmitrijs Rots gene: FOSL2 was added gene: FOSL2 was added to Ectodermal dysplasia. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to PMID: 36197437 Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome Mode of pathogenicity for gene: FOSL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FOSL2 was set to GREEN Added comment: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with NDD and aplasia cutis and truncating variants in the last exon of FOSL2. Sources: Literature |
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| Intellectual disability v7.18 | FOSL2 |
Dmitrijs Rots changed review comment from: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with truncating variants in the last exon of FOSL2. Sources: Literature; to: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with NDD and aplasia cutis and truncating variants in the last exon of FOSL2. Sources: Literature |
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| Intellectual disability v7.18 | FOSL2 |
Dmitrijs Rots gene: FOSL2 was added gene: FOSL2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOSL2 were set to PMID: 36197437 Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome Mode of pathogenicity for gene: FOSL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FOSL2 was set to GREEN Added comment: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with truncating variants in the last exon of FOSL2. Sources: Literature |
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| Intellectual disability v7.18 | PLEKHG2 | Sarah Leigh reviewed gene: PLEKHG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.18 | PLEKHG2 | Sarah Leigh Phenotypes for gene: PLEKHG2 were changed from Leukodystrophy and acquired microcephaly with or without dystonia, 616763 to Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763; leukodystrophy and acquired microcephaly with or without dystonia; MONDO:0014766 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.17 | PLEKHG2 | Sarah Leigh Publications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021; 35203342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.16 | PLEKHG2 | Sarah Leigh Publications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.15 | PLEKHG2 | Sarah Leigh Mode of inheritance for gene: PLEKHG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.14 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.14 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Intellectual disability. Sources: Literature,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | CIAO1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CIAO1. Tag Q3_24_NHS_review tag was added to gene: CIAO1. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | CIAO1 | Sarah Leigh reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | CIAO1 | Sarah Leigh Phenotypes for gene: CIAO1 were changed from myopathy to CIAO1 associated neuromuscular disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 | CIAO1 | Sarah Leigh Classified gene: CIAO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 | CIAO1 | Sarah Leigh Gene: ciao1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.13 | FIBP | Sarah Leigh changed review comment from: FIBP variants have been associated with Thauvin-Robinet-Faivre syndrome in OMIM (OMIM:617107) and Gen2Phen rate this gene as having a moderate association with FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome). To date, three biallelic FIBP variants have been reported in three unrelated patients with Thauvin-Robinet-Faivre syndrome, the variant segregated with the condition in each of these families (PMID: 26660953; 27183861; 37876348).; to: FIBP variants have been associated with Thauvin-Robinet-Faivre syndrome in OMIM (OMIM:617107) and Gen2Phen rate this gene as having a moderate association with FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome). To date, three biallelic FIBP variants have been reported in three unrelated patients with Thauvin-Robinet-Faivre syndrome, the variant segregated with the condition in each of these families (PMID: 26660953; 27183861; 37876348). The variant reported in PMID: 37876348 & 37218527 may result in a frameshift and termination, if the wild type splice site is used. However, if the splice site in the duplicated sequence is used, the variant may not be pathogenic as the coding sequence would not altered, expression studies would reveal the mechanism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.13 | FIBP |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FIBP. Tag Q3_24_NHS_review tag was added to gene: FIBP. |
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| Intellectual disability v7.13 | FIBP | Sarah Leigh reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.13 | FIBP | Sarah Leigh Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome, 617107 to Thauvin-Robinet-Faivre syndrome, OMIM:617107; tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.12 | FIBP | Sarah Leigh Publications for gene: FIBP were set to 26660953; 27183861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.3 | CUX1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CUX1. Tag Q3_24_NHS_review tag was added to gene: CUX1. |
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| Early onset or syndromic epilepsy v6.3 | CUX1 | Sarah Leigh Classified gene: CUX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.3 | CUX1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.3 | CUX1 | Sarah Leigh Gene: cux1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.2 | CUX1 |
Sarah Leigh gene: CUX1 was added gene: CUX1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 37644171 Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, OMIM:618330; global developmental delay with or without impaired intellectual development, MONDO:0032680 Review for gene: CUX1 was set to GREEN Added comment: Variants in CUX1 have been associated with Global developmental delay with or without impaired intellectual development (OMIM:618330). PMID: 37644171 reports epileptic seizures in 8/34 individuals carrying different CUX1 variants (supplementary table 1). Sources: Literature |
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| Adult onset leukodystrophy v5.1 | ABCD1 | Lucy Jackson reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.18 | THBS2 | Arina Puzriakova Classified gene: THBS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.18 | THBS2 | Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber as this is the rating that has been supported by specialists but additional cases required before this gene can be considered as diagnostic-grade. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.18 | THBS2 | Arina Puzriakova Gene: thbs2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.17 | THBS2 | Arina Puzriakova Phenotypes for gene: THBS2 were changed from ?Ehlers-Danlos syndrome, classic-like, 3 , OMIM:620865 to ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thoracic aortic aneurysm or dissection (GMS) v3.17 | THBS2 | Arina Puzriakova Phenotypes for gene: THBS2 were changed from aortic dilatation and rupture; prolonged bleeding time; atrophic scarring, joint hypermobility and frequent joint dislocations to ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.16 | THBS2 | Arina Puzriakova Phenotypes for gene: THBS2 were changed from vascular phenotype; joint hypermobility, tendon rupture, joint dislocations; prolonged bleeding; atrophic scarring, aortopathy to ?Ehlers-Danlos syndrome, classic-like, 3 , OMIM:620865 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v4.10 | TRPC5 |
Dmitrijs Rots changed review comment from: The study describes: Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression. Sources: Literature; to: The study describes multiple individuals with TRPC5 pathogenic variants (deletions and missense) with functional validation of missense and mouse model: Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression. Sources: Literature |
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| Severe early-onset obesity v4.10 | TRPC5 |
Dmitrijs Rots gene: TRPC5 was added gene: TRPC5 was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: TRPC5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TRPC5 were set to PMID: 38959890 Phenotypes for gene: TRPC5 were set to obesity Review for gene: TRPC5 was set to GREEN Added comment: The study describes: Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression. Sources: Literature |
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| Hereditary neuropathy v1.489 | SPTLC2 | Dmitrijs Rots reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 38041679, 38041684; Phenotypes: ALS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | ACTN2 | Dmitrijs Rots edited their review of gene: ACTN2: Changed publications to: PMID: 34471957, 30701273, 30900782, 38311799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | TNNI1 |
Dmitrijs Rots gene: TNNI1 was added gene: TNNI1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: TNNI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNNI1 were set to PMID: 38569017 Review for gene: TNNI1 was set to GREEN Added comment: The study describes: "We identified recessive loss-of-function TNNI1 variants as well as dominant gain-of-function TNNI1 variants as a cause of muscle disease, each with distinct physiological consequences and disease mechanisms. We identified three families with biallelic TNNI1 variants (F1: p.R14H/c.190-9G>A, F2 and F3: homozygous p.R14C), resulting in loss of function, manifesting with early-onset progressive muscle weakness and rod formation on histology. We also identified two families with a dominantly acting heterozygous TNNI1 variant (F4: p.R174Q and F5: p.K176del), resulting in gain of function, manifesting with muscle cramping, myalgias, and rod formation in F5." Sources: Literature |
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| Pigmentary skin disorders v3.12 | LZTR1 | Dmitrijs Rots reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.gim.2024.101241; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.11 | CRELD1 |
Dmitrijs Rots gene: CRELD1 was added gene: CRELD1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRELD1 were set to PMID: 37947183 Review for gene: CRELD1 was set to GREEN Added comment: The papers reports: Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Sources: Literature |
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| DDG2P v4.8 | CRELD1 | Dmitrijs Rots reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37947183; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | SNUPN |
Dmitrijs Rots gene: SNUPN was added gene: SNUPN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38413582 Phenotypes for gene: SNUPN were set to muscular dystrophy Review for gene: SNUPN was set to GREEN Added comment: The study reports:"18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects" Sources: Literature |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | SRPK3 |
Dmitrijs Rots gene: SRPK3 was added gene: SRPK3 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: SRPK3 was set to Other Publications for gene: SRPK3 were set to 38429495 Review for gene: SRPK3 was set to GREEN Added comment: multiple cases with: "that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene." Sources: Literature |
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| Congenital myopathy v4.39 | SRPK3 | Dmitrijs Rots reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38429495; Phenotypes: myopathy; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | CIAO1 |
Dmitrijs Rots gene: CIAO1 was added gene: CIAO1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to myopathy Review for gene: CIAO1 was set to GREEN Added comment: Study reported at least 4 families with: "patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms.". Sources: Literature |
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| Skeletal dysplasia v6.1 | NT5E |
Tracy Lester gene: NT5E was added gene: NT5E was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 Phenotypes for gene: NT5E were set to arterial calcification; joint calcification Review for gene: NT5E was set to GREEN Added comment: Several cases have been reported in the literature with late onset calcification of the extremity arteries and hand and foot joint capsules, and biallelic variants in NT5E. Variant pathogenicity supported by familial and functional studies. Sources: NHS GMS |
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| Likely inborn error of metabolism v6.1 | NT5E |
Tracy Lester gene: NT5E was added gene: NT5E was added to Likely inborn error of metabolism. Sources: NHS GMS Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 Phenotypes for gene: NT5E were set to arterial calcification; joint calcification Review for gene: NT5E was set to GREEN Added comment: Several cases have been reported in the literature with late onset calcification of the extremity arteries and hand and foot joint capsules, and biallelic variants in NT5E. Variant pathogenicity supported by familial and functional studies. Sources: NHS GMS |
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| Ehlers Danlos syndrome with a likely monogenic cause v3.15 | THBS2 | Duncan Baker commented on gene: THBS2: Agree that there is sufficient evidence for this to be an amber gene. Needs additional families to upgrade. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.15 | THBS2 | Duncan Baker commented on gene: THBS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.11 | PLEKHG2 | Hannah Robinson reviewed gene: PLEKHG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.8 | GDF11 | Achchuthan Shanmugasundram Phenotypes for gene: GDF11 were changed from GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122 to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder, OMIM:619122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.11 | SRPK3 | Achchuthan Shanmugasundram Classified gene: SRPK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.11 | SRPK3 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39073169 reported nine individuals from 5 unrelated families reported with SRPK3 variants and X-linked intellectual disability. Of eight patients from four families that were ascertained postnatally, seven from three families had ID, while the eighth patient was reported with global developmental delay. The ninth case that was ascertained prenatally, had a complex structural brain phenotype. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. As there is sufficient evidence available for the association of this gene to ID, this gene should be promoted to green rating in the next GMS update. |
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| Intellectual disability v7.11 | SRPK3 | Achchuthan Shanmugasundram Gene: srpk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.10 | SRPK3 | Achchuthan Shanmugasundram Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.9 | SRPK3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SRPK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.9 | SRPK3 | Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39073169; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.9 | HDAC3 | Achchuthan Shanmugasundram Classified gene: HDAC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.9 | HDAC3 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39047730 reported the identification of de novo missense variants in HDAC3 gene in six unrelated individuals with neurodevelopmental disorder. Intellectual disability of varying severity was present in five of six patients (severe and moderate ID in two each and mild ID in one). This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. This gene should be promoted to green rating in the next GMS update. |
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| Intellectual disability v7.9 | HDAC3 | Achchuthan Shanmugasundram Gene: hdac3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.10 | ALPK3 |
Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3. Tag Q3_24_MOI tag was added to gene: ALPK3. |
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| Hypertrophic cardiomyopathy v4.16 | ALPK3 |
Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3. Tag Q3_24_MOI tag was added to gene: ALPK3. |
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| Fetal hydrops v1.88 | ALPK3 | Sarah Leigh Publications for gene: ALPK3 were set to PMID: 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.87 | ALPK3 | Sarah Leigh Mode of inheritance for gene: ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.86 | ALPK3 | Sarah Leigh edited their review of gene: ALPK3: Added comment: Both biallelic and monoallelic ALPK3 variants are associated with hypertrophic cardiomyopathy (MONDO:0005045). The ClinGen Hereditary Cardiovascular Disease Expert Panel has classified this association as Definitive for autosomal recessive inheritance (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6312d79f-df12-4ec6-8ce6-0f38f19e617d-2022-02-09T170000.000Z?page=1&size=25&search=) and Strong for Autosomal dominant inheritance (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ace85164-0b70-46a2-ac6b-253088f4514d-2023-12-19T010000.000Z?page=1&size=25&search=).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.16 | ALPK3 | Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.8 | HDAC3 | Achchuthan Shanmugasundram Phenotypes for gene: HDAC3 were changed from Neurodevelopmental disorder, MONDO:0700092, HDAC3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | HDAC3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HDAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | HDAC3 | Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39047730; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | RBBP5 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | RBBP5 | Achchuthan Shanmugasundram Classified gene: RBBP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | RBBP5 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39036895 reported five unrelated cases with five different heterozygous RBBP5 variants, of which four patients had developmental delay and intellectual disability (3 with severe ID and one with mild ID). This gene has not yet been associated with relevant phenotypes wither in OMIM or in Gene2Phenotype. This gene can be promoted to green rating in the next GMS update. |
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| Intellectual disability v7.7 | RBBP5 | Achchuthan Shanmugasundram Gene: rbbp5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | RBBP5 | Achchuthan Shanmugasundram Classified gene: RBBP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.7 | RBBP5 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39036895 reported five unrelated cases with five different heterozygous RBBP5 variants, of which four patients had developmental delay and intellectual disability (3 with severe ID and one with mild ID). This gene has not yet been associated with relevant phenotypes wither in OMIM or in Gene2Phenotype. This gene can be promoted to green rating in the next GMS update. |
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| Intellectual disability v7.7 | RBBP5 | Achchuthan Shanmugasundram Gene: rbbp5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.6 | RBBP5 | Achchuthan Shanmugasundram Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.6 | RBBP5 | Achchuthan Shanmugasundram Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder MONDO:0700092, RBBP5-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.5 | RBBP5 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBBP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.5 | RBBP5 | Achchuthan Shanmugasundram reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 39036895; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.5 | PCBP2 | Achchuthan Shanmugasundram Classified gene: PCBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.5 | PCBP2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there were three unrelated cases reported with three different variants in PMID:38965372. One of them had borderline ID, one had mild ID and two had delayed motor and speech development. This gene has been associated with relevant phenotype in Gene2Phenotype (with 'limited' rating on the DD panel), but not yet in OMIM. Hence, this gene can only be rated amber with current evidence. |
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| Intellectual disability v7.5 | PCBP2 | Achchuthan Shanmugasundram Gene: pcbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.4 | PCBP2 | Achchuthan Shanmugasundram Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.4 | PCBP2 | Achchuthan Shanmugasundram Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder MONDO:0700092, PCBP2-related to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.3 | PCBP2 | Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38965372; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.10 | ALPK3 | Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.10 | ALPK3 | Sarah Leigh Publications for gene: ALPK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.9 | TAF1A | Sarah Leigh Classified gene: TAF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.9 | TAF1A | Sarah Leigh Gene: taf1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.8 | TAF1A | Sarah Leigh Added comment: Comment on phenotypes: PMID: 27878435 reports Congenital cataract and global developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.8 | TAF1A | Sarah Leigh Phenotypes for gene: TAF1A were changed from Congenital cataract and global developmental delay to Paediatric dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TAF1A. Tag Q3_24_NHS_review tag was added to gene: TAF1A. |
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| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh edited their review of gene: TAF1A: Added comment: Biallelic TAF1A variants have been associated with dilated cardiomyopathy. To date, five missense TAF1A variants and a 1.62Mb deletion (that includes the TAF1A gene) have been reported in three unrelated cases of childhood dilated cardiomyopathy (PMIDs 28472305; 29367541; 37501913, personal communication from Genomics Clinical Fellow). The unaffected parents of these cases were all heterozygous for the relevant TAF1A variant. A stable knockout of the single taf1a zebrafish homolog, was used to generate homozygous embryos, which mirrored the heart failure phenotype beginning at 6 days post-fertilization (PMID: 28472305).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh changed review comment from: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018; to: Comment on publications: The case reported in PMID: 37501913, seems to be the same patient that has been reported in an abstract from from the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| APOL1 kidney donor testing v0.1 | APOL1 |
Achchuthan Shanmugasundram gene: APOL1 was added gene: APOL1 was added to APOL1 kidney donor testing. Sources: NHS GMS Mode of inheritance for gene: APOL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOL1 were set to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, OMIM:612551 Review for gene: APOL1 was set to GREEN Added comment: APOL1 has been added to the panel for R446 APOL1 kidney donor testing with a green rating as agreed with the NHS Genomic Medicine Service. Sources: NHS GMS |
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| APOL1 kidney donor testing v0.0 |
Achchuthan Shanmugasundram Added Panel APOL1 kidney donor testing Set list of related panels to R446 Set panel types to: GMS Rare Disease |
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| NICE approved PARP inhibitor treatment v0.3 | Achchuthan Shanmugasundram List of related panels changed from to R444 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NICE approved PARP inhibitor treatment v0.2 | BRCA2 |
Achchuthan Shanmugasundram gene: BRCA2 was added gene: BRCA2 was added to NICE approved PARP inhibitor treatment. Sources: NHS GMS Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA2 were set to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; {Prostate cancer}, OMIM:176807 Review for gene: BRCA2 was set to GREEN Added comment: BRCA2 has been added to the panel for R444 NICE approved PARP inhibitor treatment with a green rating as agreed with the NHS Genomic Medicine Service. Sources: NHS GMS |
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| Bilateral congenital or childhood onset cataracts v5.2 | TAF1A | Sarah Leigh Publications for gene: TAF1A were set to 27878435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh Added comment: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.7 | TAF1A | Sarah Leigh Publications for gene: TAF1A were set to 27878435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.6 | TAF1A | Sarah Leigh Entity copied from Bilateral congenital or childhood onset cataracts v5.1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.6 | TAF1A |
Sarah Leigh gene: TAF1A was added gene: TAF1A was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Red,Literature Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1A were set to 27878435 Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay |
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| NICE approved PARP inhibitor treatment v0.1 | BRCA1 |
Achchuthan Shanmugasundram gene: BRCA1 was added gene: BRCA1 was added to NICE approved PARP inhibitor treatment. Sources: NHS GMS Mode of inheritance for gene: BRCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BRCA1 were set to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883 Review for gene: BRCA1 was set to GREEN Added comment: BRCA1 has been added to the panel for R444 NICE approved PARP inhibitor treatment with a green rating as agreed with the NHS Genomic Medicine Service. Sources: NHS GMS |
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| NICE approved PARP inhibitor treatment v0.0 |
Achchuthan Shanmugasundram Added Panel NICE approved PARP inhibitor treatment Set panel types to: GMS Rare Disease |
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| Paediatric disorders - additional genes v5.5 | MYH11 | Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYH11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.29 | MYH11 | Sarah Leigh Classified gene: MYH11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.29 | MYH11 | Sarah Leigh Gene: myh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.28 | MYH11 | Sarah Leigh edited their review of gene: MYH11: Added comment: Biallelic MYH11 variants have been associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351), and as limited Gen2Phen gene for the same condition. PMIDs 29575632 & 29575632 report five MYH11 variants in three unrelated cases of OMIM:619351. The unaffected parents of these cases were heterozygous for the MYH11 variant.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.5 | MYH11 | Sarah Leigh edited their review of gene: MYH11: Added comment: Biallelic MYH11 variants have been associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351), and as limited Gen2Phen gene for the same condition. PMIDs 29575632 & 29575632 report five MYH11 variants in three unrelated cases of OMIM:619351. The unaffected parents of these cases were heterozygous for the MYH11 variant.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.5 | MYH11 | Sarah Leigh Publications for gene: MYH11 were set to 31944481; 29575632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.28 | MYH11 | Sarah Leigh Publications for gene: MYH11 were set to 31944481; 29575632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.27 | MYH11 | Sarah Leigh Mode of inheritance for gene: MYH11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.4 | MYH11 | Sarah Leigh Mode of inheritance for gene: MYH11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.3 | MYH11 | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic Aortic MYH11 variants are associated with: aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568 and Visceral myopathy 2, OMIM:619350, MONDO:0859157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.3 | MYH11 | Sarah Leigh Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.26 | MYH11 | Sarah Leigh Added comment: Comment on phenotypes: Monoallelic Aortic MYH11 variants are associated with: aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568 and Visceral myopathy 2, OMIM:619350, MONDO:0859157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.26 | MYH11 | Sarah Leigh Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.2 | MYH11 | Sarah Leigh Entity copied from Gastrointestinal neuromuscular disorders v1.25 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.2 | MYH11 |
Sarah Leigh gene: MYH11 was added gene: MYH11 was added to Paediatric disorders - additional genes. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: MYH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH11 were set to 31944481; 29575632 Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 |
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| Gastrointestinal neuromuscular disorders v1.25 | MYH11 | Sarah Leigh Classified gene: MYH11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.25 | MYH11 | Sarah Leigh Gene: myh11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disorders v1.24 | MYH11 | Sarah Leigh Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.10 | NDC1 | Sarah Leigh Classified gene: NDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.10 | NDC1 | Sarah Leigh Gene: ndc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.9 | NDC1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NDC1. Tag Q3_24_NHS_review tag was added to gene: NDC1. Tag Q3_24_MOI tag was added to gene: NDC1. |
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| Hereditary neuropathy or pain disorder v5.9 | NDC1 | Sarah Leigh reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.489 | NDC1 | Sarah Leigh reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.489 | NDC1 | Sarah Leigh Classified gene: NDC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.489 | NDC1 | Sarah Leigh Gene: ndc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.488 | NDC1 | Sarah Leigh Classified gene: NDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.488 | NDC1 | Sarah Leigh Gene: ndc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.9 | LRP12 | Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.9 | LRP12 | Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be rated in PanelApp at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.8 | LRP12 |
Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present. |
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| Hereditary neuropathy v1.487 | LRP12 |
Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). The LRP12_CGG variant has not been verified by Clinical Team; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present. |
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| Hereditary neuropathy or pain disorder v5.8 | LRP12 |
Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). ; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present. |
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| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh commented on STR: LRP12: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.8 | LRP12 | Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Tag STR tag was added to STR: LRP12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Tag STR tag was added to gene: LRP12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Classified STR: LRP12 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Added comment: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Str: lrp12 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.8 | LRP12 | Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.8 | LRP12 | Sarah Leigh Publications for gene: LRP12 were set to 39013564; 37339631; 31332380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.7 | LRP12 | Sarah Leigh Phenotypes for gene: LRP12 were changed from Motor axonal neuropathy to Amyotrophic lateral sclerosis 28, OMIM:620452; amyotrophic lateral sclerosis 28, MONDO:0957538; Oculopharyngodistal myopathy 1, OMIM:164310; oculopharyngodistal myopathy 1, MONDO:0020793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.486 | LRP12 | Sarah Leigh Publications for STR: LRP12 were set to 39013564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.6 | LRP12 | Sarah Leigh Publications for gene: LRP12 were set to 39013564; 37339631; 31332380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.5 | LRP12 | Sarah Leigh Publications for gene: LRP12 were set to 39013564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.4 | LRP12 | Sarah Leigh Tag STR tag was added to gene: LRP12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.485 | LRP12 | Sarah Leigh Classified STR: LRP12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.485 | LRP12 | Sarah Leigh Str: lrp12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.484 | LRP12 | Sarah Leigh Publications for gene: LRP12 were set to 39013564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.483 | LRP12 | Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.483 | LRP12 | Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.4 | LRP12 | Sarah Leigh Entity copied from Hereditary neuropathy v1.482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.4 | LRP12 |
Sarah Leigh gene: LRP12 was added gene: LRP12 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP12 were set to 39013564 Phenotypes for gene: LRP12 were set to Motor axonal neuropathy |
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| Hereditary neuropathy or pain disorder v5.3 | MYO9B | Sarah Leigh Entity copied from Hereditary neuropathy v1.482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.3 | MYO9B |
Sarah Leigh gene: MYO9B was added gene: MYO9B was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9B were set to 36260368 Phenotypes for gene: MYO9B were set to CMT2 Penetrance for gene: MYO9B were set to Complete |
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| Hereditary neuropathy or pain disorder v5.2 | NDC1 | Sarah Leigh Entity copied from Hereditary neuropathy v1.482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.2 | NDC1 |
Sarah Leigh gene: NDC1 was added gene: NDC1 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDC1 were set to 39003500 Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia Penetrance for gene: NDC1 were set to Complete |
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| Paediatric or syndromic cardiomyopathy v5.5 | MAP3K7 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAP3K7. Tag Q3_24_NHS_review tag was added to gene: MAP3K7. |
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| Paediatric or syndromic cardiomyopathy v5.5 | MAP3K7 | Sarah Leigh edited their review of gene: MAP3K7: Added comment: At least 15 MAP3K7 variants have been associated with Cardiospondylocarpofacial syndrome (OMIM:157800)(PMID: 35730652;34687574;29467388;27426734). The publications report that the MAP3K7 variants were de novo in 16/18 cases (one variant was inherited from the affected father and one was not maternal and the paternal sample was not available (PMID: 35730652).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.5 | MAP3K7 | Sarah Leigh Publications for gene: MAP3K7 were set to 35730652; 34687574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.4 | MAP3K7 | Sarah Leigh Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 to Cardiospondylocarpofacial syndrome, OMIM:157800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.3 | MAP3K7 | Sarah Leigh Classified gene: MAP3K7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.3 | MAP3K7 | Sarah Leigh Gene: map3k7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.2 | MAP3K7 |
Sarah Leigh gene: MAP3K7 was added gene: MAP3K7 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAP3K7 were set to 35730652; 34687574 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 Review for gene: MAP3K7 was set to AMBER Added comment: Sources: Expert Review |
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| Non-syndromic hypotrichosis v1.14 | HR | Sarah Leigh Added comment: Comment on phenotypes: Monoallleic HRURF variants are associated with Hypotrichosis 4, OMIM:146550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic hypotrichosis v1.14 | HR | Sarah Leigh Phenotypes for gene: HR were changed from Marie Unna hereditary hypotrichosis (MUHH); Alopecia universalis, OMIM:203655 to Alopecia universalis, OMIM:203655; Atrichia with papular lesions, OMIM:209500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-syndromic hypotrichosis v1.13 | HR | Sarah Leigh reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.3 | ATXN7L3 | Sarah Leigh Classified gene: ATXN7L3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.3 | ATXN7L3 | Sarah Leigh Gene: atxn7l3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.2 | ATXN7L3 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATXN7L3. Tag Q3_24_NHS_review tag was added to gene: ATXN7L3. Tag Q3_24_MOI tag was added to gene: ATXN7L3. |
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| Intellectual disability v7.2 | ATXN7L3 |
Sarah Leigh gene: ATXN7L3 was added gene: ATXN7L3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN7L3 were set to 38753057; 33731875 Phenotypes for gene: ATXN7L3 were set to syndromic neurodevelopmental disorder Review for gene: ATXN7L3 was set to GREEN Added comment: ATXN7L3 variants are not associated with a phenotype in OMIM or Gen2Phen. PMID: 38753057 reports five monoallelic ATXN7L3 variants in nine unrelated cases. The variants were de novo, where this could be established (8/9 cases). Common features in the cases were: global developmental delay (8/9), dysmorphic features (7/9), hypotonia (7/9), strabismus (4/6), abnormal brain MRI (6/8). ATXN7L3 protein levels were reduced and deubiquitylation was impaired, resulting in increased levels of histone H2Bub1 in the fibroblasts of an affected individual carrying the recurrent variant: NM_001382309.1: c.340C>T; p.(Arg114Ter). This finding was consistent with the increased H2Bub1 levels in Atxn7l3-null mouse embryos, who have developmental delay and embryonic lethality (PMID: 33731875). Sources: Literature |
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| Haematological malignancies cancer susceptibility v4.5 | HAVCR2 |
Lauma Freimane edited their review of gene: HAVCR2: Added comment: PMID: 30374066 "The variant encoding p.Tyr82Cys TIM-3 occurs on a potential founder chromosome in patients with East Asian and Polynesian ancestry, while p.Ile97Met TIM-3 occurs in patients with European ancestry. Both variants induce protein misfolding and abrogate TIM-3’s plasma membrane expression, leading to persistent immune activation and increased production of inflammatory cytokines, including tumor necrosis factor-α and interleukin-1β, promoting HLH and SPTCL."; Changed publications to: PMID: 32005988, 30374066 |
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| Haematological malignancies cancer susceptibility v4.5 | HAVCR2 |
Lauma Freimane gene: HAVCR2 was added gene: HAVCR2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to PMID: 32005988 Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like (OMIM: 618398) Penetrance for gene: HAVCR2 were set to Incomplete Mode of pathogenicity for gene: HAVCR2 was set to Other Review for gene: HAVCR2 was set to GREEN gene: HAVCR2 was marked as current diagnostic Added comment: From PMID: 32005988: Homozygous p.Ile97Met variant was found in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) patients with European ancestry, 1 patient from North Africa, and patient from Reunion Island. Sources: Expert list, Expert Review, Literature |
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| Hypertrophic cardiomyopathy v4.16 | KLHL24 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: KLHL24. Tag Q3_24_NHS_review tag was added to gene: KLHL24. |
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| Hypertrophic cardiomyopathy v4.16 | KLHL24 | Sarah Leigh reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.16 | KLHL24 | Sarah Leigh Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.15 | KLHL24 | Sarah Leigh Classified gene: KLHL24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.15 | KLHL24 | Sarah Leigh Gene: klhl24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.34 | TYROBP |
Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: TYROBP. Tag Q3_24_demote_red tag was added to gene: TYROBP. Tag Q3_24_expert_review tag was added to gene: TYROBP. |
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| Osteopetrosis v1.34 | TYROBP | Sarah Leigh reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | CASP10 | Sarah Leigh Added comment: Comment on mode of inheritance: Both monoallelic and biallelic variant have been reported (PMID: 38704374). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | CASP10 | Sarah Leigh Mode of inheritance for gene: CASP10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 | CASP10 | Sarah Leigh Tag Q3_24_MOI tag was added to gene: CASP10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 | CASP10 | Sarah Leigh edited their review of gene: CASP10: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 | CASP10 |
Sarah Leigh Tag Q3_24_expert_review tag was added to gene: CASP10. Tag Q3_24_demote_amber tag was added to gene: CASP10. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 | CASP10 | Sarah Leigh Publications for gene: CASP10 were set to 25663566; 16446975; 16611303; 10412980; 21447005; 27378136; 9028957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 | CASP10 | Sarah Leigh edited their review of gene: CASP10: Added comment: PMID: 38704374, aimed to assess the impact of CASP10 variants on autoimmune lymphoproliferative syndrome (ALPS) pathogenesis, by assessing the effect of CASP10 variants within the Imagine Institute's genetic platform (INSERM UMR 1163, Paris, France). Using this large dataset, the authors were able to confirm that the missense variants p.V410I and p.Y446C, are present in the general population at a high frequency. Furthermore, these variants do not affect the CASP10 catalytic domain and no difference was observed in CASP10 protein expression or FAS-mediated apoptosis between healthy controls and subjects bearing these variants in both homozygous and heterozygous states. Two patient had the CASP10 variant p.C401LfsX15, which is lies within QACQG catalytic site in the CASP10 catalytic domain. The patient S2 was homozygous for this variant, resulting in a lack of Caspase-10 RNA and protein. However, the authors report that "FAS-mediated apoptosis was surprisingly comparable to healthy controls in each of the tested cell lines suspected to have a role in ALPS". In patient S1, who was heterozygous p.C401LfsX15, the authors report that although the levels of CASP10 protein expression was reduced, there was normal FAS-mediated apoptosis compared to healthy controls. From these results, the authors conclude that it appears that "Caspase-10 is dispensable for FAS-mediated apoptosis: an undetectable CASP10 protein expression has no impact on lymphocyte apoptosis and on individuals’ clinical and laboratory phenotype". Although they do comment, that post-translational or epigenetic mechanisms may play a role, as yet unidentified.; Changed rating: AMBER; Changed publications to: 38704374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 | CASP10 | Sarah Leigh Added comment: Comment on phenotypes: Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, autoimmunity; Diseases of Immune Dysregulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 | CASP10 | Sarah Leigh Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II, 603909; Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, autoimmunity; Diseases of Immune Dysregulation to Autoimmune lymphoproliferative syndrome, type II, OMIM:603909; autoimmune lymphoproliferative syndrome type 2A, MONDO:0011383 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.1 | DHRSX | Miel Theunis reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821050; Phenotypes: CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.15 | ARL2BP | Sarah Leigh changed review comment from: ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546).; to: ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.34 | RPL27 | Hannah Knight reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38988374; Phenotypes: ?Diamond-Blackfan anemia 16, 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other rare neuromuscular disorders v23.8 | Achchuthan Shanmugasundram Panel version 23.7 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset leukodystrophy v23.2 | Eleanor Williams Panel version 23.1 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypotonic infant v33.8 | Achchuthan Shanmugasundram Panel version 33.7 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral malformation v13.3 | Eleanor Williams Panel version 13.2 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders v52.6 | Eleanor Williams Panel version 52.5 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic renal disease v9.3 | Arina Puzriakova Panel version 9.2 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained death in infancy and sudden unexplained death in childhood v12.11 | Achchuthan Shanmugasundram Panel version 12.10 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia and cerebellar anomalies - childhood onset v17.3 | Arina Puzriakova Panel version 17.2 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy Super panel v16.5 | Arina Puzriakova Panel version 16.4 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Catecholaminergic polymorphic VT v4.7 | Eleanor Williams Panel version 4.6 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v3.11 | Eleanor Williams Panel version 3.10 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v3.12 | Eleanor Williams Panel version 3.11 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | Achchuthan Shanmugasundram Panel version 4.34 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.51 | Eleanor Williams Panel version 4.50 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myaesthenic syndrome v4.7 | Achchuthan Shanmugasundram Panel version 4.6 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v3.13 | Achchuthan Shanmugasundram Panel version 3.12 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.9 | Eleanor Williams Panel version 3.8 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v2.9 | Achchuthan Shanmugasundram Panel version 2.8 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.5 | Eleanor Williams Panel version 4.4 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v3.9 | Achchuthan Shanmugasundram Panel version 3.8 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric motor neuronopathies v3.8 | Eleanor Williams Panel version 3.7 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.14 | Achchuthan Shanmugasundram Panel version 4.13 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.32 | Achchuthan Shanmugasundram Panel version 2.31 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological segmental overgrowth v2.14 | Arina Puzriakova Panel version 2.13 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.6 | Arina Puzriakova Panel version 4.5 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.7 | Arina Puzriakova Panel version 4.6 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.191 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial rhabdoid tumours v1.10 | Arina Puzriakova Panel version 1.9 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.39 | Arina Puzriakova Panel version 4.38 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.25 | Arina Puzriakova Panel version 4.24 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.8 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Isovaleric acidaemia v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Isovaleric acidaemia v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Isovaleric acidaemia v0.8 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v0.7 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v6.1 | Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v6.0 | Achchuthan Shanmugasundram promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.1 | Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.1 | Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.0 | Achchuthan Shanmugasundram promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v6.0 | Arina Puzriakova promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v7.1 | Arina Puzriakova Panel version 7.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.0 | Achchuthan Shanmugasundram promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v7.0 | Arina Puzriakova promoted panel to version 7.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.1 | Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.0 | Arina Puzriakova promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v5.1 | Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v5.0 | Achchuthan Shanmugasundram promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.1 | Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.0 | Arina Puzriakova promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.1 | Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes v5.0 | Arina Puzriakova promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.1 | Arina Puzriakova Panel version 7.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v5.1 | Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.1 | Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v5.0 | Achchuthan Shanmugasundram promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v5.0 | Arina Puzriakova promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.0 | Arina Puzriakova promoted panel to version 7.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.1 | Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v6.0 | Achchuthan Shanmugasundram promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.1 | Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v5.1 | Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.1 | Eleanor Williams Panel version 7.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v5.0 | Arina Puzriakova promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.0 | Eleanor Williams promoted panel to version 7.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v5.0 | Achchuthan Shanmugasundram promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| NARP syndrome or maternally inherited Leigh syndrome v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v6.1 | Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v6.0 | Achchuthan Shanmugasundram promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.1 | Arina Puzriakova Panel version 3.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v5.1 | Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.0 | Arina Puzriakova promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v5.0 | Achchuthan Shanmugasundram promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.1 | Arina Puzriakova Panel version 3.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.0 | Arina Puzriakova promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.1 | Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.1 | Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v5.0 | Arina Puzriakova promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.0 | Arina Puzriakova promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.1 | Eleanor Williams Panel version 4.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.0 | Eleanor Williams promoted panel to version 4.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v5.1 | Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v5.0 | Eleanor Williams promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.1 | Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v5.0 | Achchuthan Shanmugasundram promoted panel to version 5.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.14 | Arina Puzriakova Panel version 4.13 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.1 | Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v6.0 | Eleanor Williams promoted panel to version 6.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.190 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.7 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Isovaleric acidaemia v0.7 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v0.6 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.26 | Achchuthan Shanmugasundram List of related panels changed from Likely inborn error of metabolism - targeted testing not possible; Likely inborn error of metabolism; Inborn errors of metabolism; R98 to Likely inborn error of metabolism - targeted testing not possible; Inborn errors of metabolism; R98 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v4.13 | Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.25 | Arina Puzriakova Panel name changed from Likely inborn error of metabolism - targeted testing not possible to Likely inborn error of metabolism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial rhabdoid tumours v1.9 |
Arina Puzriakova Panel name changed from Rhabdoid tumour predisposition to Familial rhabdoid tumours List of related panels changed from R358 to Rhabdoid tumour predisposition; R358 |
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| Monogenic short stature v0.189 | LIG4 | Achchuthan Shanmugasundram Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, OMIM:606593; microcephaly, growth retardation, immunodeficiency, developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.188 | PCNT | Achchuthan Shanmugasundram Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.187 | RNU4ATAC | Achchuthan Shanmugasundram Phenotypes for gene: RNU4ATAC were changed from MOPD I to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.186 | XRCC4 | Achchuthan Shanmugasundram Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.185 | ATRIP | Achchuthan Shanmugasundram Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Microcephalic primordial dwarfism; Microcephaly, micrognathia, small ear lobes, dental crowding | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.184 | CDC6 | Achchuthan Shanmugasundram Phenotypes for gene: CDC6 were changed from ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.183 | GLI3 | Achchuthan Shanmugasundram Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.182 | SLF2 |
Achchuthan Shanmugasundram changed review comment from: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association. This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature; to: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association. This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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| Intellectual disability v6.77 | PCBP2 |
Zornitza Stark gene: PCBP2 was added gene: PCBP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCBP2 were set to 38965372 Phenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related Review for gene: PCBP2 was set to GREEN Added comment: Three individuals reported with de novo variants and DD/ASD. Sources: Literature |
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| Intellectual disability v6.77 | RBBP5 |
Zornitza Stark gene: RBBP5 was added gene: RBBP5 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBBP5 were set to 39036895 Phenotypes for gene: RBBP5 were set to neurodevelopmental disorder MONDO:0700092, RBBP5-related Review for gene: RBBP5 was set to GREEN Added comment: Five individuals reported, four of whom had de novo variants. Four had DD/ID; other more variable features included short stature, microcephaly, SNHL, seizures and hypotonia. Sources: Literature |
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| Intellectual disability v6.77 | HDAC3 |
Zornitza Stark gene: HDAC3 was added gene: HDAC3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC3 were set to 39047730 Phenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Added comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data. Sources: Literature |
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| Intellectual disability v6.77 | SRPK3 |
Zornitza Stark gene: SRPK3 was added gene: SRPK3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPK3 were set to 39073169 Phenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related Review for gene: SRPK3 was set to GREEN Added comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish). Sources: Literature |
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| White matter disorders and cerebral calcification - narrow panel v4.4 | RNU7-1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.182 | Achchuthan Shanmugasundram Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.6 | Achchuthan Shanmugasundram Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v0.5 | Achchuthan Shanmugasundram Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Isovaleric acidaemia v0.6 | Achchuthan Shanmugasundram Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Isovaleric acidaemia v0.5 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for Glutaric acidaemia I v0.4 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.181 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.5 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v4.6 | BICD2 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: BICD2. Tag Q3_24_NHS_review tag was added to gene: BICD2. |
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| Adult onset hereditary spastic paraplegia v4.6 | BICD2 | Sarah Leigh Publications for gene: BICD2 were set to 23664116; 23664120; 25497877; 30536747; 24482476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v4.5 | BICD2 | Sarah Leigh reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v4.5 | BICD2 | Sarah Leigh Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v4.5 | BICD2 | Sarah Leigh Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v4.4 | BICD2 | Sarah Leigh Entity copied from Hereditary neuropathy v1.482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v4.4 | BICD2 |
Sarah Leigh gene: BICD2 was added gene: BICD2 was added to Adult onset hereditary spastic paraplegia. Sources: NHS GMS,Expert Review Green,South West GLH,Expert list,London North GLH Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 23664116; 23664120; 25497877; 30536747; 24482476 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Penetrance for gene: BICD2 were set to Complete |
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| Hereditary neuropathy v1.482 | BICD2 | Sarah Leigh Publications for gene: BICD2 were set to 23664116; 23664120; 25497877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.481 | BICD2 | Sarah Leigh Publications for gene: BICD2 were set to 23664116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.24 | MT-RNR2 | Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.29 | RMRP |
Sarah Leigh Tag locus-type-rna-misc was removed from gene: RMRP. Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. |
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| Familial Hirschsprung Disease v1.10 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.33 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.34 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | RMRP | Sarah Leigh commented on gene: RMRP: HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.5 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenias and congenital anaemias v1.118 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia without a known gene mutation v1.28 | RMRP | Sarah Leigh commented on gene: RMRP: HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.29 | RMRP | Sarah Leigh commented on gene: RMRP: HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.142 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies for rare disease v1.18 | RMRP | Sarah Leigh commented on gene: RMRP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v3.29 | RMRP |
Sarah Leigh Tag locus-type-rna-long-non-coding was removed from gene: RMRP. Tag locus-type-rna-misc tag was added to gene: RMRP. |
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| Intellectual disability v6.77 | XIST | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: XIST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.33 | H19 | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: H19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.7 | RNF216 | Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685; 26250479; 25841028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.6 | RNF216 | Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685; 26250479 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.5 | COL4A2 | Sarah Leigh Added comment: Comment on publications: https://link.springer.com/article/10.1007/s00415-016-8280-3 is PMID: 27624120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.5 | COL4A2 | Sarah Leigh Publications for gene: COL4A2 were set to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.4 | AARS | Sarah Leigh Added comment: Comment on publications: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10142409/ is PMID: 37106376. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880494/ is PMID: 31775912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.4 | AARS | Sarah Leigh Publications for gene: AARS were set to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.33 | GATA1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: GATA1. Tag Q3_24_expert_review tag was added to gene: GATA1. |
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| Fetal anomalies v4.33 | GATA1 | Sarah Leigh changed review comment from: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).; to: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337). This gene could be relevant to the fetal anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.33 | GATA1 | Sarah Leigh Classified gene: GATA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.33 | GATA1 | Sarah Leigh Gene: gata1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.32 | GATA1 | Sarah Leigh Entity copied from Fetal hydrops v1.86 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.32 | GATA1 |
Sarah Leigh gene: GATA1 was added gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GATA1 were set to 10700180; 33082562; 20301538; 30914438; 29949202; 35580337 Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083 |
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| DDG2P v4.6 | RNU12 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v3.28 | MT-TS1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar keratoderma and erythrokeratodermas v1.31 | MT-TS1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v6.7 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.38 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.30 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.13 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.50 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.86 | MT-TE | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v4.11 | MT-RNR1 | Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.79 | MIR184 | Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | MIR184 | Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v3.10 | MIR184 | Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | MIR17HG | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.34 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | RMRP |
Sarah Leigh Tag locus-type-rna-misc was removed from gene: RMRP. Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. |
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| Haematological malignancies cancer susceptibility v4.5 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenias and congenital anaemias v1.118 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | RMRP |
Sarah Leigh Tag locus-type-rna-ribosomal was removed from gene: RMRP. Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. |
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| Ectodermal dysplasia without a known gene mutation v1.28 | RMRP |
Sarah Leigh Tag locus-type-rna-misc was removed from gene: RMRP. Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. |
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| Ectodermal dysplasia v3.29 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.142 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies for rare disease v1.18 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.10 | RMRP | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | TRAC | Sarah Leigh Tag locus-type-T-cell-receptor-gene tag was added to gene: TRAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.142 | TRAC | Sarah Leigh Tag locus-type-T-cell-receptor-gene tag was added to gene: TRAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.7 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.34 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.5 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours cancer susceptibility v2.29 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenias and congenital anaemias v1.118 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenias and congenital anaemias v1.118 | TERC | Sarah Leigh Tag locus-type-rna-misc was removed from gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | TERC | Sarah Leigh Tag locus-type-rna-misc was removed from gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v3.3 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.31 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.29 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v3.12 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.18 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial pulmonary fibrosis v1.31 | TERC |
Sarah Leigh Tag locus-type-rna-misc was removed from gene: TERC. Tag locus-type-rna-long-non-coding tag was added to gene: TERC. |
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| COVID-19 research v1.142 | TERC | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.30 | SNORD118 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | SNORD118 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | SNORD118 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.3 | SNORD118 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | SNORA31 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORA31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.142 | SNORA31 | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORA31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | RNU4ATAC |
Sarah Leigh Tag locus-type-small-nucleolar was removed from gene: RNU4ATAC. Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. |
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| Childhood onset dystonia, chorea or related movement disorder v4.10 | RNU7-1 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | RNU7-1 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v5.3 | RNU7-1 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | RNU7-1 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.4 | RNU7-1 |
Sarah Leigh Tag gene-checked was removed from gene: RNU7-1. Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1. |
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| Retinal disorders v5.15 | RNU4ATAC | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.30 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.34 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v3.10 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.7 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.142 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | IGHM | Sarah Leigh Tag locus-type-immunoglobulin-gene tag was added to gene: IGHM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.142 | IGHM | Sarah Leigh Tag locus-type-immunoglobulin-gene tag was added to gene: IGHM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | MSL2 | Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.76 | MSL2 | Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.76 | MSL2 | Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.76 | MSL2 | Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.76 | MSL2 | Achchuthan Shanmugasundram Publications for gene: MSL2 were set to 31332282; 33057194; 38702431; 38815585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.76 | MSL2 | Achchuthan Shanmugasundram Publications for gene: MSL2 were set to 31332282; 33057194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.75 | MSL2 | Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: MSL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.75 | MSL2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MSL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.75 | MSL2 | Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38702431, 38815585; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.75 | MAPKAPK5 | Achchuthan Shanmugasundram Classified gene: MAPKAPK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.75 | MAPKAPK5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (6 unrelated families) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.75 | MAPKAPK5 | Achchuthan Shanmugasundram Gene: mapkapk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.74 | MAPKAPK5 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.74 | MAPKAPK5 | Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Neurocardiofaciodigital syndrome, OMIM:619869 to Neurocardiofaciodigital syndrome, OMIM:619869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.73 | MAPKAPK5 | Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism to Neurocardiofaciodigital syndrome, OMIM:619869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.72 | MAPKAPK5 | Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.71 | MAPKAPK5 | Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35575217, 36581449; Phenotypes: Neurocardiofaciodigital syndrome, OMIM:619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.7 | MAPKAPK5 |
Achchuthan Shanmugasundram changed review comment from: PMID:35575217 reported a 19-month-old boy of Italian descent with neurocardiofaciodigital syndrome (NCFD). He had global developmental delay and his digit abnormalities include short fingers, broad big toes and marked toenail hypoplasia/dysplasia. He was identified with a pathogenic homozygous nonsense variant in MAPKAPK5 gene (p.Arg394Ter). PMID:36581449 reported three unrelated individuals (one each from Pakistani, Palestinian - Arab and Egyptian descent) with NCFD. All of them had varying degrees of developmental delay and intellectual disability (one each with profound, severe and moderate ID), and digit abnormalities. They were all identified with homozygous MAPKAPK5 variant (p.Leu224Cysfs*4, p.Gln437Ter and p.Gly107Val ). This gene has been associated with relevant phenotypes in OMIM (MIM #619869) and Gene2Phenotype (with 'strong' rating on the DD panel); to: PMID:35575217 reported a 19-month-old boy of Italian descent with neurocardiofaciodigital syndrome (NCFD). He had global developmental delay and his digit abnormalities include short fingers, broad big toes and marked toenail hypoplasia/dysplasia. He was identified with a pathogenic homozygous nonsense variant in MAPKAPK5 gene (p.Arg394Ter). PMID:36581449 reported three unrelated individuals (one each from Pakistani, Palestinian - Arab and Egyptian descent) with NCFD. All of them had varying degrees of developmental delay and intellectual disability (one each with profound, severe and moderate ID), and digit abnormalities. They were all identified with homozygous MAPKAPK5 variant (p.Leu224Cysfs*4, p.Gln437Ter and p.Gly107Val ). This gene has been associated with relevant phenotypes in OMIM (MIM #619869) and Gene2Phenotype (with 'strong' rating on the DD panel). |
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| Limb disorders v5.7 | MAPKAPK5 | Achchuthan Shanmugasundram Classified gene: MAPKAPK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.7 | MAPKAPK5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available (6 unrelated families), this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.7 | MAPKAPK5 | Achchuthan Shanmugasundram Gene: mapkapk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.6 | MAPKAPK5 | Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly to Neurocardiofaciodigital syndrome, OMIM:619869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.5 | MAPKAPK5 | Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026; 35575217; 36581449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.5 | MAPKAPK5 | Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.4 | MAPKAPK5 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v5.4 | MAPKAPK5 | Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35575217, 36581449; Phenotypes: Neurocardiofaciodigital syndrome, OMIM:619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.13 | KLHL24 |
Nour Elkhateeb gene: KLHL24 was added gene: KLHL24 was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL24 were set to 30715372; 32870709; 36672924 Phenotypes for gene: KLHL24 were set to Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death Review for gene: KLHL24 was set to GREEN Added comment: KLHL24 variants have been reported in relation to autosomal recessive hypertrophic cardiomyopathy in several individuals from four families in three publications (PMIDs: 30715372, 32870709, 36672924) with variants including missense and nonsense variants. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression data (PMID: 23715323). Sources: Literature |
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| Hereditary neuropathy v1.480 | LRP12 |
Alexander Rossor STR: LRP12 was added STR: LRP12 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for STR: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12 were set to 39013564 Phenotypes for STR: LRP12 were set to Motor axonal neuropathy Review for STR: LRP12 was set to GREEN Added comment: Sources: Literature |
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| Hereditary neuropathy v1.480 | NDC1 |
Alexander Rossor gene: NDC1 was added gene: NDC1 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDC1 were set to 39003500 Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia Penetrance for gene: NDC1 were set to Complete Review for gene: NDC1 was set to GREEN Added comment: 7 individuals from 4 unrelated consanguinioius families Sources: Literature |
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| Hereditary neuropathy v1.480 | LRP12 |
Alexander Rossor gene: LRP12 was added gene: LRP12 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP12 were set to 39013564 Phenotypes for gene: LRP12 were set to Motor axonal neuropathy Review for gene: LRP12 was set to GREEN Added comment: Trinucleotide repeat expansion, 44 patients with neuropathy in Japanese cohort Sources: Literature |
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| Ataxia and cerebellar anomalies - narrow panel v5.8 | LNPK | Achchuthan Shanmugasundram Classified gene: LNPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.8 | LNPK | Achchuthan Shanmugasundram Gene: lnpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.7 | LNPK |
Achchuthan Shanmugasundram gene: LNPK was added gene: LNPK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to 30032983; 35599435 Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 Review for gene: LNPK was set to AMBER Added comment: PMID:30032983 reported three individuals from two different consanguineous families with homozygous LNPK variants. The only individual from the second family with p.Arg251Ter had ataxia and cerebellar atrophy, while one of two individuals from family 1 (with p.Pro243LeufsTer2 variant) had mild vermian hypoplasia and wide-based gait. PMID:35599435 reported a girl born to consanguineous healthy parent of Turkish descent with a novel LNPK variant (c.770delA/ p.D257fs*31). She presented with ataxia, psychomotor delay, cerebellar dysfunction and myoclonic seizures. Sources: Literature |
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| Early onset or syndromic epilepsy v5.30 | LNPK | Achchuthan Shanmugasundram Classified gene: LNPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.30 | LNPK | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with epilepsy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.30 | LNPK | Achchuthan Shanmugasundram Gene: lnpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.29 | LNPK | Achchuthan Shanmugasundram Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.29 | LNPK | Achchuthan Shanmugasundram Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.29 | LNPK | Achchuthan Shanmugasundram Publications for gene: LNPK were set to 30032983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.28 | LNPK | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LNPK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.28 | LNPK | Achchuthan Shanmugasundram reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.19 | LEMD2 | Achchuthan Shanmugasundram Classified gene: LEMD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.19 | LEMD2 | Achchuthan Shanmugasundram Gene: lemd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.18 | LEMD2 |
Achchuthan Shanmugasundram gene: LEMD2 was added gene: LEMD2 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature founder-effect tags were added to gene: LEMD2. Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LEMD2 were set to 26788539; 31061923 Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM:212500 Review for gene: LEMD2 was set to AMBER Added comment: PMID:2678853 reported the identification of the homozygous missense LEMD2 variant (p.Thr38Gly) in 17 members of four unrelated Lehrerleut Hutterite kindreds with juvenile cataract. The age of cataract presentation was mostly between 3 and 7 years with the exception of an individual presenting at the age of 26 years. In two of the pedigrees, seven individuals died of sudden, apparently arrhythmogenic events in the third through fifth decades; six of those patients also had juvenile-onset cataracts. PMID:31061923 reported 19 members from two extended Hutterite kindreds that had juvenile cataract with or without arrhythmic cardiomyopathy. One of these kindreds were reported previously in PMID:2678853. A homozygous p.Leu13Arg variant was identified in the other kindred that was not previously reported in literature. The homozygous variant was also identified in one apparently unaffected carrier, a 13-year-old girl without cataract who was believed to be presymptomatic. Sources: Literature |
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| Osteogenesis imperfecta v4.7 | KIF5B | Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.7 | KIF5B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.7 | KIF5B | Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.6 | KIF5B |
Achchuthan Shanmugasundram gene: KIF5B was added gene: KIF5B was added to Osteogenesis imperfecta. Sources: Literature Q3_24_promote_green tags were added to gene: KIF5B. Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to 37934770 Phenotypes for gene: KIF5B were set to osteogenesis imperfecta, MONDO:0019019 Review for gene: KIF5B was set to GREEN Added comment: PMID:37934770 reported the identification of three distinct de novo heterozygous KIF5B variants (p.Thr87Ile, p.Gly90Ala and p.Thr195Lys) in four unrelated individuals with osteogenesis imperfecta (OI). All these variants are present within the highly conserved kinesis motor domain. Functional studies in C. elegans, human cell lines and bone biopsy show impaired protein function and suggest dominant negative mechanism for variants. It is not clear what distinguishes OI phenotypes from other phenotypes for this gene reported in PMIDs: 35342932 and 36018820. Sources: Literature |
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| Skeletal dysplasia v5.11 | KIF5B | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIF5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | KIF5B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.71 | IREB2 | Achchuthan Shanmugasundram Classified gene: IREB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.71 | IREB2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.71 | IREB2 | Achchuthan Shanmugasundram Gene: ireb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.70 | IREB2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IREB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.70 | IREB2 | Achchuthan Shanmugasundram Phenotypes for gene: IREB2 were changed from Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.69 | IREB2 | Achchuthan Shanmugasundram Publications for gene: IREB2 were set to 11175792; 30915432; 31243445; 35602653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.69 | IREB2 | Achchuthan Shanmugasundram Publications for gene: IREB2 were set to 30915432; 31243445; 11175792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.68 | IREB2 |
Achchuthan Shanmugasundram changed review comment from: PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia. This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the ID panel).; to: PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia. This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the DD panel). |
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| Intellectual disability v6.68 | IREB2 | Achchuthan Shanmugasundram reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35602653; Phenotypes: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLIS2 variants and with nephronophthisis (MIM #611498). There is also functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLIS2 variants and with nephronophthisis (MIM #611498). There is also functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.8 | GLIS2 | Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.7 | GLIS2 | Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from Nephronophthisis; NPHP; Nephronophthisis 7, 611498 to Nephronophthisis 7, OMIM:611498 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.7 | GLIS2 | Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to 17618285; 18227149; 23559409; 26374130; 31676329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.7 | GLIS2 | Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to 26374130; 23559409; 17618285; 18227149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.6 | GLIS2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GLIS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.11 | GLIS2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases with biallelic GLIS2 variants and with childhood-onset end stage renal disease. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated cases with biallelic GLIS2 variants and with childhood-onset end stage renal disease. In addition, there is functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.11 | GLIS2 | Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.11 | GLIS2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases with biallelic GLIS2 variants and with childhood-onset end stage renal disease. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.11 | GLIS2 | Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.10 | GLIS2 | Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from Ciliopathy genes associated with cystic kidney disease to Nephronophthisis 7, OMIM:611498 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.9 | GLIS2 | Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.8 | GLIS2 | Achchuthan Shanmugasundram Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.7 | GLIS2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GLIS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.7 | GLIS2 | Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17618285, 23559409, 26374130, 31676329; Phenotypes: Nephronophthisis 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v3.6 | GLIS2 |
Achchuthan Shanmugasundram changed review comment from: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2. PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2. PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age.; to: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2. PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2. PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years of age with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age. |
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| Renal ciliopathies v3.6 | GLIS2 | Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17618285, 23559409, 26374130, 31676329; Phenotypes: Nephronophthisis 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.17 | GEMIN4 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: here are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.17 | GEMIN4 | Achchuthan Shanmugasundram Classified gene: GEMIN4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.17 | GEMIN4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: here are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.17 | GEMIN4 | Achchuthan Shanmugasundram Gene: gemin4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.16 | GEMIN4 | Achchuthan Shanmugasundram Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.15 | GEMIN4 | Achchuthan Shanmugasundram Publications for gene: GEMIN4 were set to 27878435; 25558065; 30237576 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.14 | GEMIN4 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GEMIN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v4.14 | GEMIN4 | Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35052432, 35861185; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.68 | GEMIN4 | Achchuthan Shanmugasundram Classified gene: GEMIN4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.68 | GEMIN4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.68 | GEMIN4 | Achchuthan Shanmugasundram Gene: gemin4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.67 | GEMIN4 | Achchuthan Shanmugasundram Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.66 | GEMIN4 | Achchuthan Shanmugasundram Publications for gene: GEMIN4 were set to 25558065; 27878435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.65 | GEMIN4 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GEMIN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.65 | GEMIN4 |
Achchuthan Shanmugasundram changed review comment from: PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract.; to: PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract. This gene has been associated with relevant phenotypes in OMIM (MIM #617913) and Gene2Phenotype (with 'strong' rating on the DD panel). |
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| Intellectual disability v6.65 | GEMIN4 | Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35052432, 35861185; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.14 | GAS2L2 | Achchuthan Shanmugasundram Classified gene: GAS2L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.14 | GAS2L2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional evidence available in support of the association of GAS2L2 with primary ciliary dyskinesia. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.14 | GAS2L2 | Achchuthan Shanmugasundram Gene: gas2l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.13 | GAS2L2 | Achchuthan Shanmugasundram Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to ?Ciliary dyskinesia, primary, 41, OMIM:618449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.12 | GAS2L2 | Achchuthan Shanmugasundram Publications for gene: GAS2L2 were set to 30665704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.11 | GAS2L2 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GAS2L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.11 | GAS2L2 | Achchuthan Shanmugasundram changed review comment from: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.; to: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.11 | GAS2L2 | Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36104176; Phenotypes: ?Ciliary dyskinesia, primary, 41, OMIM:618449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.65 | GABBR1 | Achchuthan Shanmugasundram Classified gene: GABBR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.65 | GABBR1 | Achchuthan Shanmugasundram Gene: gabbr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.64 | GABBR1 |
Achchuthan Shanmugasundram gene: GABBR1 was added gene: GABBR1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABBR1 were set to 36103875 Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502 Review for gene: GABBR1 was set to AMBER Added comment: PMID:36103875 reported the identification of monoallelic de novo variants in four unrelated individuals presenting with motor and/or language delay, ranging from mild to severe, and in one case, epilepsy. Intellectual disability was present in two of four individuals, whereas ID was not documented in one patient. This gene has been associated with relevant phenotypes in OMIM (MIM #620502) and Gene2Phenotype (with 'moderate' rating on the DD panel). Sources: Literature |
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| Early onset or syndromic epilepsy v5.28 | FZR1 | Achchuthan Shanmugasundram Classified gene: FZR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.28 | FZR1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.28 | FZR1 | Achchuthan Shanmugasundram Gene: fzr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.63 | FZR1 | Achchuthan Shanmugasundram Classified gene: FZR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.63 | FZR1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.63 | FZR1 | Achchuthan Shanmugasundram Gene: fzr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.27 | FZR1 |
Achchuthan Shanmugasundram changed review comment from: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant. PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature; to: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant. PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. There is functional evidence available for variants reported in this study. This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature |
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| Intellectual disability v6.62 | FZR1 |
Achchuthan Shanmugasundram changed review comment from: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant. PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature; to: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant. PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. There is functional evidence available for variants reported in this study. This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature |
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| Early onset or syndromic epilepsy v5.27 | FZR1 |
Achchuthan Shanmugasundram gene: FZR1 was added gene: FZR1 was added to Early onset or syndromic epilepsy. Sources: Literature Q3_24_promote_green tags were added to gene: FZR1. Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZR1 were set to 31318984; 34788397 Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, OMIM:620145 Review for gene: FZR1 was set to GREEN Added comment: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant. PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature |
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| Intellectual disability v6.62 | FZR1 |
Achchuthan Shanmugasundram gene: FZR1 was added gene: FZR1 was added to Intellectual disability. Sources: Literature Q3_24_promote_green tags were added to gene: FZR1. Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZR1 were set to 31318984; 34788397 Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, OMIM:620145 Review for gene: FZR1 was set to GREEN Added comment: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant. PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel). Sources: Literature |
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| Likely inborn error of metabolism v5.24 | FUK | Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.23 | FUK | Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.23 | FUK | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported and hence this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.23 | FUK | Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | FUK | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.26 | FUK | Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.26 | FUK | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated patients reported with seizures and hence this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.26 | FUK | Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.25 | FUK | Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.24 | FUK | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.24 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.8 | FUK | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.8 | FUK | Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.8 | FUK | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported and hence this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.8 | FUK | Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.7 | FUK | Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.6 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.61 | FUK | Achchuthan Shanmugasundram Phenotypes for gene: FUK were changed from Seizures; Generalized hypotonia; Feeding difficulties; Intellectual disability; Global developmental delay; Congenital disorder of glycosylation with defective fucosylation 2, 618324 to Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.60 | FUK | Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.60 | FUK | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families reported with ID (severe in three families and mild in one). Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.60 | FUK | Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.59 | FUK | Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.58 | FUK | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.58 | FUK | Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.17 | FRA10AC1 | Achchuthan Shanmugasundram Classified gene: FRA10AC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.17 | FRA10AC1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.17 | FRA10AC1 | Achchuthan Shanmugasundram Gene: fra10ac1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.16 | FRA10AC1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.16 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 Review for gene: FRA10AC1 was set to GREEN Added comment: PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. All five individuals had microcephaly and the Z-score of OFC was <-3 for four individuals from three families. This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel). Sources: Literature |
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| Intellectual disability v6.58 | FRA10AC1 | Achchuthan Shanmugasundram Classified gene: FRA10AC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.58 | FRA10AC1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families reported with biallelic FRA10AC1 variants and intellectual disability and/ or global developmental delay. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.58 | FRA10AC1 | Achchuthan Shanmugasundram Gene: fra10ac1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.57 | FRA10AC1 |
Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Intellectual disability. Sources: Literature Q3_24_promote_green tags were added to gene: FRA10AC1. Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367; 35871492; 35821753 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 Review for gene: FRA10AC1 was set to GREEN Added comment: PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. There is some functional evidence available for the p.Glu165del variant, which shows that this variant impacts intrinsic stability of FRA10AC1 but does not affect its nuclear localisation. PMID:35871492 reported the identification of a homozygous nonsense variant (c.328C>T/ p.Arg110Ter) in two sisters from a consanguineous family. They presented with global developmental delay, growth impairment, congenital malformations and facial dysmorphism. Another patient identified from the DECIPHER database was also reported with a ~13kb homozygous deletion encompassing exons 1-3 and with global developmental delay. PMID:35821753 reported the identification of a homozygous LOF nonsense variant (c.481C>T/ p.Arg161Ter) in two siblings from a highly consanguineous Arab family. They presented with dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, and congenital heart disease. This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel). Sources: Literature |
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| Hypogonadotropic hypogonadism (GMS) v3.20 | FEZF1 | Achchuthan Shanmugasundram Classified gene: FEZF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.20 | FEZF1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and some functional evidence available in support of the association of this gene to hypogonadotropic hypogonadism. Hence, this gene can be rated green on the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.20 | FEZF1 | Achchuthan Shanmugasundram Gene: fezf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.19 | FEZF1 | Achchuthan Shanmugasundram Publications for gene: FEZF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FEZF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 |
Achchuthan Shanmugasundram changed review comment from: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.; to: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant. This gene has been associated with relevant phenotypes in OMIM (MIM #616030) and Gene2Phenotype (with 'strong' rating on the DD panel) |
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| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram edited their review of gene: FEZF1: Changed publications to: 25192046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram changed review comment from: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.; to: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism (GMS) v3.18 | FEZF1 | Achchuthan Shanmugasundram reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.4 | FAM149B1 | Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.4 | FAM149B1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.4 | FAM149B1 | Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.3 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400; 3482825 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.2 | FAM149B1 | Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Changed publications to: 34828254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.2 | FAM149B1 | Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.2 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.1 | FAM149B1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmological ciliopathies v4.1 | FAM149B1 |
Achchuthan Shanmugasundram changed review comment from: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; to: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18). This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel). |
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| Ophthalmological ciliopathies v4.1 | FAM149B1 | Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; Changed rating: GREEN; Changed publications to: 3482825; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.6 | FAM149B1 | Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome 36, OMIM:618763 to Joubert syndrome 36, OMIM:618763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.5 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400; 34828254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.4 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.3 | FAM149B1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.3 | FAM149B1 |
Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18). This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel).; Changed rating: GREEN; Changed publications to: 34828254; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Neurological ciliopathies v4.4 | FAM149B1 | Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.3 | FAM149B1 | Achchuthan Shanmugasundram Classified gene: FAM149B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.3 | FAM149B1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.3 | FAM149B1 | Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.2 | FAM149B1 |
Achchuthan Shanmugasundram changed review comment from: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; to: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18). This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel). |
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| Neurological ciliopathies v4.2 | FAM149B1 | Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.1 | FAM149B1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v4.1 | FAM149B1 | Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; Changed rating: GREEN; Changed publications to: 34828254; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | DCC | Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | DCC | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.31 | DCC | Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.30 | DCC | Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.29 | DCC | Achchuthan Shanmugasundram Publications for gene: DCC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.28 | DCC | Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.27 | DCC | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.27 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046, 28250456, 33141514; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC |
Achchuthan Shanmugasundram changed review comment from: PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis. PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with childhood-onset progressive scoliosis. This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel).; to: PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis. PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with mild scoliosis at birth, which continued to increase progressively. This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel). |
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| Childhood onset dystonia, chorea or related movement disorder v4.10 | DCC |
Achchuthan Shanmugasundram changed review comment from: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981). PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood. PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum. PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family. Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.; to: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981). PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood. PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum. PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family, of which four members were symptomatic, showing reduced penetrance of the variant. Two pregnancies in this family were terminated due to prenatal detection of agenesis of the corpus callosum and dilated lateral ventricles. Only one of these foetuses were tested and carried the variant. Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype. |
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| Childhood onset dystonia, chorea or related movement disorder v4.10 | DCC |
Achchuthan Shanmugasundram changed review comment from: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981). PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood. PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum. PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family. Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.; to: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981). PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood. PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum. PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family. Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype. |
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| Childhood onset dystonia, chorea or related movement disorder v4.10 | DCC | Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.10 | DCC | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (at least eight unrelated families) for the association of monoallelic DCC variants with mirror movement disorder. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.10 | DCC | Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.9 | DCC | Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.8 | DCC | Achchuthan Shanmugasundram Publications for gene: DCC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.7 | DCC | Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.6 | DCC | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v4.6 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported and hence this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.11 | DCC | Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.10 | DCC | Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.9 | DCC | Achchuthan Shanmugasundram Publications for gene: DCC were set to 28250456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.8 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28250456, 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.56 | DCC | Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.56 | DCC | Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.55 | DCC | Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.55 | DCC | Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.55 | DCC | Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.55 | DCC | Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.54 | DCC | Achchuthan Shanmugasundram reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: None; Publications: 28250456, 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.8 | COL27A1 | Achchuthan Shanmugasundram Classified gene: COL27A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.8 | COL27A1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.8 | COL27A1 | Achchuthan Shanmugasundram Gene: col27a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.7 | COL27A1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COL27A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v5.7 | COL27A1 |
Achchuthan Shanmugasundram gene: COL27A1 was added gene: COL27A1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503; 31903681; 32360765; 33963180 Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155 Review for gene: COL27A1 was set to GREEN Added comment: PMID:24986830 reported the identification of a homozygous missense variant in COL27A1 gene (p.Gly697Arg) in a non-consanguineous family of Hispanic Puerto Rican descent with Steel syndrome. The sibling pair presented with bilateral congenital hip dysplasia and coxa vara. The identified variant seems to have arisen as a founder mutation in the Puerto Rican population. PMID:28276056 reported a 5-year-old girl from a non-consanguineous family of Indian descent with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. This patient also had developmental delay and hearing loss and was identified with novel compound heterozygous variants c.521_528del (p.Cys174Serfs*34) and c.2119C>T (p.Arg707Ter) in COL27A1. PMID:28322503 reported a child from a consanguineous family of Emirati descent with features of Steel syndrome, including bilateral hip dislocations, short upper limbs, and dysmorphic facial features. She had delayed speech and severe bilateral sensorineural hearing loss. She was identified with a novel homozygous splice site variant in COL27A1 (c.3556-2A>G). PMID:31903681 reported three more patients of Puerto Rican descent with Steel syndrome and with the previously reported founder variant (p.Gly697Arg). They had either hip dislocations or hip dysplasia. PMID:32360765 reported a 4-year-old boy from a non-consanguineous family of European descent with dysmorphic facial features, absent hip ossification centres, external rotation of both feet, relatively short stature, mild skin syndactyly, short mid phalanges and bilateral sensorineural hearing loss. He was identified with a novel homozygous missense variant p.(Gly802Glu) in COL27A1. PMID:33963180 reported the identification of novel compound heterozygous variants (c.4229_4233dup/ p.Gly1412Argfs*157 and c.3718_5436del/ p.Gly1240_Lys1812del) in COL27A1 in an 11-year-old child from a non-consanguineous family of Korean descent. He presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. This gene has been associated with relevant phenotypes in OMIM (MIM #615155) and Gene2Phenotype (with 'definitive' rating on the DD panel). Sources: Literature |
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| Intellectual disability v6.54 | B9D1 | Achchuthan Shanmugasundram Classified gene: B9D1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.54 | B9D1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated individuals reported with Joubert syndrome, where intellectual disability or global developmental delay is part of the phenotype. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.54 | B9D1 | Achchuthan Shanmugasundram Gene: b9d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.53 | B9D1 | Achchuthan Shanmugasundram Publications for gene: B9D1 were set to 21493627; 24886560; 25920555; 32622957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.53 | B9D1 | Achchuthan Shanmugasundram Publications for gene: B9D1 were set to 24886560; 25920555; 21493627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.52 | B9D1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: B9D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.52 | B9D1 | Achchuthan Shanmugasundram reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622957; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | RRAS | Tracy Lester reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 2470537; Phenotypes: Noonan-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.6 | DDOST | Achchuthan Shanmugasundram Classified gene: DDOST as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.6 | DDOST | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated patients and some functional evidence) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.6 | DDOST | Achchuthan Shanmugasundram Gene: ddost has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.5 | DDOST | Achchuthan Shanmugasundram Phenotypes for gene: DDOST were changed from ?Congenital disorder of glycosylation, type Ir 614507 to Congenital disorder of glycosylation, type Ir, OMIM:614507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.4 | DDOST | Achchuthan Shanmugasundram Publications for gene: DDOST were set to 22305527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.3 | DDOST | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DDOST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v5.3 | DDOST | Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305527, 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TY | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TY | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TY | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TW | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TW | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TW | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TV | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TV | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TV | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TS2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TS2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TS2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TS2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TS1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.50 | MT-TS1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TS1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TS1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TR | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TR | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TR | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TQ | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TQ | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TQ | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TP | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TN | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TN | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TN | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TM | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TM | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TM | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TL2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TL2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TL2 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v4.11 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.480 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.58 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial diabetes v1.67 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.67 | MT-TL1 | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TK | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TK | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TK | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple lipomas v1.1 | MT-TK | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v4.10 | MT-TI | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TI | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TI | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TI | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.13 | MT-TI | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | MT-TH | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TH | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TH | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TH | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TG | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TG | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TG | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TF | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TF | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TF | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.7 | MT-TF | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v3.3 | MT-TF | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TE | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TE | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TE | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TD | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TD | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TD | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.9 | MT-TC | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TC | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.620 | MT-TC | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.27 | MIR17HG | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-RNR1 | Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.22 | MT-TA | Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.480 | MT-RNR1 | Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v3.11 | ABCD1 | Dmitrijs Rots reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.24 | CNTN2 | Achchuthan Shanmugasundram Classified gene: CNTN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.24 | CNTN2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.24 | CNTN2 | Achchuthan Shanmugasundram Gene: cntn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.23 | CNTN2 | Achchuthan Shanmugasundram Phenotypes for gene: CNTN2 were changed from Epilepsy, familial adult myoclonic, 5 to Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.22 | CNTN2 | Achchuthan Shanmugasundram Publications for gene: CNTN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.21 | CNTN2 | Achchuthan Shanmugasundram Mode of inheritance for gene: CNTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.20 | CNTN2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CNTN2. Tag Q3_24_NHS_review tag was added to gene: CNTN2. |
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| Early onset or syndromic epilepsy v5.20 | CNTN2 |
Achchuthan Shanmugasundram edited their review of gene: CNTN2: Added comment: PMID:23518707 reported a consanguineous Egyptian family in which five siblings aged 11 to 14 years had seizures and were identified with a homozygous frameshift CNTN2 variant (p.Trp168fs). PMID:34691156 reported a 10-year old boy born of unrelated parents of Han Chinese descent, with developmental delay and onset of generalised tonic-clonic seizures at 5 years of age and identified with a homozygous frameshift CNTN2 variant (p.Thr958Thrfs). PMID:36553572 reported a 13-year-old boy with global developmental delay and epileptic encephalopathy and was associated with a homozygous nonsense variant (p.Arg314Ter) in the CNTN2 gene. PMID:37359369 reported a consanguineous Pakistani family in which four siblings developed various types of seizures late in the first decade of their life and had global developmental,ental delay with mild intellectual disability. They were identified with a homozygous nonsense CNTN2 variant (p.Glu567Ter) This gene has been associated with relevant phenotypes in OMIM (MIM #615400), but not yet in Gene2Phenotype.; Changed publications to: 23518707, 34691156, 36553572, 37359369 |
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| Intellectual disability v6.52 | MSL2 | Nour Elkhateeb reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38815585, 38702431; Phenotypes: Developmental delay, intellectual disability, autism spectrum disorder, hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.20 | CNTN2 | Achchuthan Shanmugasundram reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.52 | TBC1D7 |
Achchuthan Shanmugasundram Tag watchlist was removed from gene: TBC1D7. Tag Q3_24_promote_green tag was added to gene: TBC1D7. Tag Q3_24_NHS_review tag was added to gene: TBC1D7. |
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| Intellectual disability v6.52 | TBC1D7 | Achchuthan Shanmugasundram Classified gene: TBC1D7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.52 | TBC1D7 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Frances Elmslie, PMID:36669495 reported an additional case with compound heterozygous variants (identified via trio RNA-Seq) and presenting with a neurodevelopmental disorder involving mild intellectual disability. Hence, this gene can be promoted to green rating with the current evidence (three unrelated cases and functional studies) in the next GMS update. |
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| Intellectual disability v6.52 | TBC1D7 | Achchuthan Shanmugasundram Gene: tbc1d7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.51 | TBC1D7 | Achchuthan Shanmugasundram Publications for gene: TBC1D7 were set to PMID: 23687350; 24515783 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | TBC1D7 | Achchuthan Shanmugasundram reviewed gene: TBC1D7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36669495; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v4.11 | ARSA | Alexander Rossor edited their review of gene: ARSA: Added comment: Peripheral neuropathy is a well recognised feature of metachromatic leukodystrophy; Changed publications to: 31684987; Changed phenotypes to: Metachromatic leukodystrophy. Severe late infantile form with mental retardation and severe course. Regression before 30 months, adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v4.11 | APTX | Alexander Rossor edited their review of gene: APTX: Added comment: APTX recessive variants are a well established cause of cerebellar ataxia and peripheral neuropathy; Changed rating: GREEN; Changed publications to: 11176957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.86 | GATA1 | Sarah Leigh Phenotypes for gene: GATA1 were changed from Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.85 | GATA1 | Sarah Leigh Publications for gene: GATA1 were set to 10700180; 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.84 | GATA1 | Sarah Leigh Classified gene: GATA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.84 | GATA1 | Sarah Leigh Gene: gata1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.83 | GATA1 | Sarah Leigh reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301538, 30914438, 29949202, 35580337; Phenotypes: Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.83 | GATA1 | Sarah Leigh Publications for gene: GATA1 were set to 10700180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.82 | G6PD | Sarah Leigh Publications for gene: G6PD were set to 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.81 | G6PD | Sarah Leigh reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 23719252; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.81 | G6PD | Sarah Leigh Publications for gene: G6PD were set to PMID: 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.80 | G6PD | Sarah Leigh Classified gene: G6PD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.80 | G6PD | Sarah Leigh Gene: g6pd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.27 | FZD6 | Sarah Leigh Phenotypes for gene: FZD6 were changed from NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 to Nail disorder, nonsyndromic congenital, 1, OMIM:161050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.26 | FZD6 | Sarah Leigh Publications for gene: FZD6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.25 | FZD6 | Sarah Leigh Classified gene: FZD6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.25 | FZD6 | Sarah Leigh Gene: fzd6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.24 | FZD6 | Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.79 | FZD6 | Sarah Leigh Classified gene: FZD6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.79 | FZD6 | Sarah Leigh Gene: fzd6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.78 | FZD6 | Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.78 | FZD6 | Sarah Leigh Phenotypes for gene: FZD6 were changed from Nonimmune hydrops fetalis to Nail disorder, nonsyndromic congenital, 1, OMIM:161050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.77 | FZD6 | Sarah Leigh Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.76 | FZD6 | Sarah Leigh Publications for gene: FZD6 were set to 33082562; 26036949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.75 | FZD6 | Sarah Leigh Publications for gene: FZD6 were set to 33082562; 26036949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.74 | FZD6 | Sarah Leigh Publications for gene: FZD6 were set to 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.73 | FZD6 | Sarah Leigh Publications for gene: FZD6 were set to PMID: 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.72 | CDC42 | Sarah Leigh reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.72 | CDC42 | Sarah Leigh Classified gene: CDC42 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.72 | CDC42 | Sarah Leigh Gene: cdc42 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.71 | CDC42 | Sarah Leigh Publications for gene: CDC42 were set to 3308256229335451; 26708094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.70 | CDC42 | Sarah Leigh Publications for gene: CDC42 were set to 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.69 | CDC42 | Sarah Leigh Publications for gene: CDC42 were set to PMID: 33082562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.68 | CANT1 | Sarah Leigh Classified gene: CANT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.68 | CANT1 | Sarah Leigh Gene: cant1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.24 | ANGPT2 | Sarah Leigh Entity copied from Fetal hydrops v1.67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.24 | ANGPT2 |
Sarah Leigh gene: ANGPT2 was added gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANGPT2 were set to 32908006; 34876502 Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 |
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| Fetal hydrops v1.67 | ANGPT2 | Sarah Leigh Mode of inheritance for gene: ANGPT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.66 | ANGPT2 | Sarah Leigh Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.65 | ALPK3 | Sarah Leigh Classified gene: ALPK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.65 | ALPK3 | Sarah Leigh Gene: alpk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.64 | ALPK3 | Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.20 | CNTN2 | Sarah Graham reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37359369, 34691156, 28397838, 36553572; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v1.34 | TYROBP | Ian Berry reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.3 | DGKE |
Achchuthan Shanmugasundram Tag for-review was removed from gene: DGKE. Tag to_be_confirmed_NHSE was removed from gene: DGKE. |
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| Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.3 | CFH |
Achchuthan Shanmugasundram Tag for-review was removed from gene: CFH. Tag to_be_confirmed_NHSE was removed from gene: CFH. |
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| Acute rhabdomyolysis v1.18 | CYP2C8 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene remains red as the MOI is unknown and rhabdomyolysis is drug-induced rather than inherited.; to: The rating of this gene remains red as the MOI is unknown and rhabdomyolysis is drug-induced rather than inherited. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.18 | CYP2C8 | Achchuthan Shanmugasundram reviewed gene: CYP2C8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | TBC1D7 | Frances Elmslie reviewed gene: TBC1D7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24515783, 23687350, 36669495, 35584673; Phenotypes: Macrocephaly, intellectual disability, megalencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.18 | CYP2C8 | Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: CYP2C8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | RNU4-2 |
Arina Puzriakova changed review comment from: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID: 38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay. |
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| Early onset or syndromic epilepsy v5.20 | RNU4-2 |
Arina Puzriakova changed review comment from: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID: 38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay. |
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| Severe microcephaly v5.15 | RNU4-2 |
Arina Puzriakova changed review comment from: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID: 38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay. |
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| Intellectual disability v6.50 | RNU4-2 |
Arina Puzriakova changed review comment from: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.; to: Comment on list classification: Multiple individuals have been identified in PMID: 38821540 with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Additional cases with mutual findings have also been reported in PMID: 38645094, corroborating this gene-disease association - however, PMID: 38645094 is still in preprint at this time. Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update. |
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| Early onset or syndromic epilepsy v5.20 | RNU4-2 |
Arina Puzriakova changed review comment from: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.; to: Comment on list classification: Multiple individuals have been identified in PMID: 38821540 with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Additional cases with mutual findings have also been reported in PMID: 38645094, corroborating this gene-disease association - however, PMID: 38645094 is still in preprint at this time. Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update. |
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| Severe microcephaly v5.15 | RNU4-2 |
Arina Puzriakova changed review comment from: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.; to: Comment on list classification: Multiple individuals have been identified in PMID: 38821540 with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Additional cases with mutual findings have also been reported in PMID: 38645094, corroborating this gene-disease association - however, PMID: 38645094 is still in preprint at this time. Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update. |
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| Intellectual disability v6.50 | RNU4-2 |
Arina Puzriakova changed review comment from: Second paper by Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings with the PMID: 38645094 paper (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay. |
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| Early onset or syndromic epilepsy v5.20 | RNU4-2 |
Arina Puzriakova changed review comment from: Second paper by Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings with the PMID: 38645094 paper (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay. |
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| Severe microcephaly v5.15 | RNU4-2 |
Arina Puzriakova changed review comment from: Second paper by Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings with the PMID: 38645094 paper (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource. Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data. Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT. Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay. |
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| Retinal disorders v5.15 | AHR | Mohammed Derar changed review comment from: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | DCT |
Mohammed Derar gene: DCT was added gene: DCT was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807) Phenotypes for gene: DCT were set to oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation Penetrance for gene: DCT were set to Complete Review for gene: DCT was set to GREEN Added comment: Biallelic variants in DCT are reported to cause oculocutaneous albinism type 8 in multiple unrelated and affected families. This form of albinism has subtle hypopigmentation and displays the classical ocular manifestations of foveal hypoplasia, iris transillumination defect and fundus hypopigmentation. It is therefore imperative to sprobe DCT in patients with retinal abnormalities and presumbly normal pigmentation. Sources: Literature |
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| Retinal disorders v5.15 | SLC38A8 | Mohammed Derar changed review comment from: Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies foveal hypoplasia in its syndromic and isolated forms.; to: Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies isolated foveal hypoplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar changed review comment from: additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar changed review comment from: Unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | FRMD7 | Mohammed Derar edited their review of gene: FRMD7: Added comment: Further evidence from a study studing 904 patients with foveal hypoplasia detected FRMD7 variants in 3.5% of the cohort. The phenotype associated with FRMD7 mutations was a grade 1 foveal hypoplasia.; Changed publications to: (Choi et al., 2018) (PMID: 30025138), (Thomas et al., 2014) (PMID:24688117), (Kuht et al., 2022) (PMID:35157951) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | FRMD7 |
Mohammed Derar changed review comment from: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014) Sources: Literature; to: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014) Sources: Literature |
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| Retinal disorders v5.15 | PAX6 | Mohammed Derar changed review comment from: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; to: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) having monoallelic variants in PAX6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.11 | DAW1 | Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.15 | DAW1 | Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: DAW1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v3.10 | RHOBTB2 | Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: RHOBTB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.34 | SMCHD1 | Achchuthan Shanmugasundram Mode of inheritance for gene: SMCHD1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 | SMCHD1 | Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: SMCHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 | HMGCR | Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: HMGCR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.30 | LETM1 | Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v3.106 | LETM1 | Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v2.15 | STX16 | Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.50 | LETM1 | Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | IL6ST | Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, MOI of this gene should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.; to: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, there is sufficient evidence available for the association of monoallelic IL6ST variants to this panel. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | IL6ST | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, MOI of this gene should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 | IL6ST | Achchuthan Shanmugasundram Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.9 | IL6ST | Achchuthan Shanmugasundram Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752; ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750; Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523; Stuve-Wiedemann syndrome 2, OMIM:619751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL6ST | Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: IL6ST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL6ST | Achchuthan Shanmugasundram reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32207811; Phenotypes: Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752, ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750, Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523, Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | PAX6 | Mohammed Derar edited their review of gene: PAX6: Added comment: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; Changed publications to: (Hingorani et al., 2009) (PMID: 19218613), (Thomas et al., 2014) (PMID: 23942204), (Cunha et al., 2021) (PMID: 33024313), (Jiang et al., 2021) (PMID:34415986), (Azuma et al., 1996) (https://doi.org/10.1086/302529) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.15 | AHR | Mohammed Derar edited their review of gene: AHR: Added comment: Unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; Changed publications to: (Mayer et al., 2019) (PMID: 31009037), (Borovok et al., 2020) (PMID: 33193710), (AlMoallem et al., 2022) (PMID:35188035) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | UNC13A | David Collier reviewed gene: UNC13A: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 32627229, PMID: 19734901, PMID: 35197628, PMID: 30739198, PMID: 24931836; Phenotypes: ALS, amyotrophic lateral sclerosis, motor neuron disease, MND, Frontotemporal Dementia (FTD), ALS and FTD (FTD-TDP); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | ANXA11 | David Collier reviewed gene: ANXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28469040, PMID: 30337194, PubMed: 34048612; Phenotypes: ALS, amyotrophic lateral sclerosis, ALS 23, motor neuron disease, Inclusion body myopathy and brain white matter abnormalities (IBMWMA, MULTISYSTEM PROTEINOPATHY 6, MSP6); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.20 | RNU12 | Arina Puzriakova Phenotypes for gene: RNU12 were changed from porokeratosis; erythematous cutaneous eruption to CDAGS syndrome, OMIM:603116; porokeratosis; erythematous cutaneous eruption | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.19 | RNU12 | Arina Puzriakova Tag gene-checked was removed from gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 | RNU12 | Arina Puzriakova Tag gene-checked was removed from gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | SPG11 | David Collier reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20110243, PMID: 36445564, PMID: 37133535, PMID: 27066562, PMID: 25681989, PMID: 38938072; Phenotypes: Juvenile amyotrophic lateral sclerosis (ALS) with long survival, hereditary motor sensory neuropathy (Charcot–Marie–Tooth disease type 2X), and multiple sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 | RNU12 | Arina Puzriakova commented on gene: RNU12: This gene has been tagged again for promotion from Amber to Green as there is enough evidence to support a gene-disease association. RNU12 was not previously added as it is a non-coding gene that was not tiered but it has since been added to the tiering pipeline. Therefore it is appropriate to upgrade it to Green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.19 | RNU12 | Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 | RNU12 |
Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: RNU12. Tag Q3_24_promote_green tag was added to gene: RNU12. Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. |
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| Rare genetic inflammatory skin disorders v3.19 | RNU12 | Arina Puzriakova commented on gene: RNU12: Removed 'currently-ngs-unreportable' tag as tiering of non-coding genes including RNU12, has now been added to the Genomics England Rare Disease pipeline. The Ensembl ID for RNU12 has also been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v3.19 | RNU12 | Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 | RNU12 | Arina Puzriakova commented on gene: RNU12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.69 | SQSTM1 | David Collier reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22084127 PMID: 23417734 PMID: 23303844 PMID: 22972638 PMID: 24138988 PMID: 24042580 PMID: 23942205, PMID: 23812289, PMID: 25700176, PMID: 28889094, PMID: 29457785, PMID: 31859009, PMID: 32028661; Phenotypes: ALS, MND, motor neuron disease, Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis 3, Paget's disease of bone, frontotemporal lobar degeneration, Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Myopathy, distal, with rimmed vacuoles; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.4 | NAA60 | Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v5.4 | NAA60 | Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v5.8 | NAA60 | Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v5.7 | NAA60 | Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.3 | NAA60 | Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v5.3 | NAA60 | Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v5.3 | NAA60 | Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v4.3 | NAA60 | Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL1R1 | Achchuthan Shanmugasundram Classified gene: IL1R1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL1R1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, PMID:37315560 reported the identification of monoallelic IL1R1 variant (p.Lys131Glu) in a patient with chronic recurrent multifocal osteomyelitis and some functional evidence in support of the association. Hence, this gene can be rated amber with the current evidence. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 | IL1R1 | Achchuthan Shanmugasundram Gene: il1r1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.7 | IL1R1 | Achchuthan Shanmugasundram Phenotypes for gene: IL1R1 were changed from chronic recurrent multifocal osteomyelitis to ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.6 | IL1R1 | Achchuthan Shanmugasundram Publications for gene: IL1R1 were set to PMID: 37315560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 | IL1R1 | Achchuthan Shanmugasundram edited their review of gene: IL1R1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 | IL1R1 | Achchuthan Shanmugasundram reviewed gene: IL1R1: Rating: RED; Mode of pathogenicity: None; Publications: 37315560; Phenotypes: ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Classified gene: DIP2B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by others, only STRs in DIP2B were previously associated with intellectual disability. Hence, the rating should be changed from amber to red and the STR should be added to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Gene: dip2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Classified gene: DIP2B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by others, only STRs in DIP2B were previously associated with intellectual disability. Hence, the rating should be changed from amber to red and the STR should be added to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.50 | DIP2B | Achchuthan Shanmugasundram Gene: dip2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.23 | ESAM |
Achchuthan Shanmugasundram Tag Q4_23_expert_review was removed from gene: ESAM. Tag Q4_23_NHS_review tag was added to gene: ESAM. |
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| Adult onset neurodegenerative disorder v5.7 | NAA60 | Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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